Variant report

Variant	nsv914030
Chromosome Location	chr21:46802952-46829362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:950)
CpG islands
(count:1406)
Chromatin interactive
region (count:105)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:950 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46806872-46807072	K562	blood:	n/a	n/a
2	ARID3A	chr21:46818852-46818853	K562	blood:	n/a	n/a
3	ARID3A	chr21:46826256-46826693	HepG2	liver:	n/a	n/a
4	BACH1	chr21:46825635-46826507	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr21:46820955-46821287	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:46826783-46827235	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr21:46820940-46821280	K562	blood:	n/a	n/a
8	BHLHE40	chr21:46829246-46830762	HepG2	liver:	n/a	chr21:46830299-46830315
9	BHLHE40	chr21:46824106-46824205	K562	blood:	n/a	n/a
10	BHLHE40	chr21:46815971-46816196	K562	blood:	n/a	n/a
11	BHLHE40	chr21:46806802-46807158	K562	blood:	n/a	n/a
12	BHLHE40	chr21:46816008-46816116	HepG2	liver:	n/a	n/a
13	BHLHE40	chr21:46825731-46825825	K562	blood:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
14	BHLHE40	chr21:46803192-46803251	K562	blood:	n/a	n/a
15	BHLHE40	chr21:46826246-46826616	HepG2	liver:	n/a	n/a
16	BHLHE40	chr21:46825694-46826042	HepG2	liver:	n/a	chr21:46825746-46825762 chr21:46825747-46825763
17	CBX3	chr21:46821033-46821469	HCT-116	colon:	n/a	n/a
18	CBX3	chr21:46820914-46821705	K562	blood:	n/a	n/a
19	CBX3	chr21:46820985-46821465	K562	blood:	n/a	n/a
20	CCNT2	chr21:46824623-46824856	K562	blood:	n/a	chr21:46824690-46824699
21	CCNT2	chr21:46825232-46826246	K562	blood:	n/a	n/a
22	CEBPB	chr21:46814851-46815104	IMR90	lung:	n/a	chr21:46814966-46814977
23	CEBPB	chr21:46814970-46814999	K562	blood:	n/a	n/a
24	CEBPB	chr21:46820833-46821043	HepG2	liver:	n/a	chr21:46820993-46821004
25	CEBPB	chr21:46820897-46821028	Hela-S3	cervix:	n/a	chr21:46820993-46821004
26	CEBPB	chr21:46806571-46807103	IMR90	lung:	n/a	n/a
27	CEBPB	chr21:46826873-46827110	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr21:46814961-46814996	HepG2	liver:	n/a	chr21:46814966-46814977
29	CHD1	chr21:46826822-46827170	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr21:46824830-46827867	IMR90	lung:	n/a	chr21:46825547-46825557 chr21:46825830-46825840 chr21:46826118-46826128
31	CHD1	chr21:46825911-46826598	H1-hESC	embryonic stem cell:	n/a	chr21:46826118-46826128
32	CHD2	chr21:46803809-46804009	HepG2	liver:	n/a	n/a
33	CHD2	chr21:46827012-46827016	HepG2	liver:	n/a	n/a
34	CHD2	chr21:46826441-46827176	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr21:46825325-46825676	A549	lung:	n/a	n/a
36	CTBP2	chr21:46823926-46824638	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr21:46826511-46827035	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr21:46826880-46827030	HVMF	connective:	n/a	n/a
39	CTCF	chr21:46826600-46826750	RPTEC	kidney:	n/a	n/a
40	CTCF	chr21:46827680-46827830	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr21:46827660-46827810	HEK293	kidney:	n/a	n/a
42	CTCF	chr21:46806960-46807110	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr21:46806858-46807115	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr21:46824460-46824610	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr21:46826931-46827259	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr21:46827540-46827690	WI-38	lung:	n/a	n/a
47	CTCF	chr21:46806960-46807110	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr21:46827620-46827770	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr21:46827040-46827190	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:46806900-46807050	HMEC	breast:	n/a	n/a

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46825840-46825890	SAEC	small airway:	n/a
2	chr21:46810558-46810608	HCM	heart:	n/a
3	chr21:46810558-46810608	HEEpiC	esophagus:	n/a
4	chr21:46825840-46825890	SAEC	small airway:	n/a
5	chr21:46810558-46810608	HCM	heart:	n/a
6	chr21:46810558-46810608	HEEpiC	esophagus:	n/a
7	chr21:46824278-46824328	HepG2	liver:	n/a
8	chr21:46825190-46825240	BE2_C	brain:	n/a
9	chr21:46824938-46824988	SK-N-SH	brain:	n/a
10	chr21:46813036-46813086	A549	lung:	n/a
11	chr21:46825190-46825240	SK-N-SH	brain:	n/a
12	chr21:46824732-46824782	IMR90	lung:	fetal
13	chr21:46825222-46825272	NHBE	bronchial:	n/a
14	chr21:46813298-46813348	PANC-1	pancreas:	n/a
15	chr21:46823800-46823850	PFSK-1	brain:	n/a
16	chr21:46822283-46822333	ovcar-3	ovarian:	n/a
17	chr21:46813145-46813195	HCT-116	colon:	n/a
18	chr21:46816585-46816635	LNCaP	prostate:	n/a
19	chr21:46824976-46825026	GM12878	blood:	n/a
20	chr21:46812996-46813046	SK-N-SH	brain:	n/a
21	chr21:46823800-46823850	HRCEpiC	kidney:	n/a
22	chr21:46822283-46822333	PrEC	prostate:	n/a
23	chr21:46825222-46825272	BE2_C	brain:	n/a
24	chr21:46824278-46824328	GM06990	blood:	n/a
25	chr21:46825004-46825054	IMR90	lung:	fetal
26	chr21:46816585-46816635	Caco-2	colon:	n/a
27	chr21:46812511-46812561	Jurkat	blood:	n/a
28	chr21:46825190-46825240	NHDF-neo	bronchial:	n/a
29	chr21:46813298-46813348	BE2_C	brain:	n/a
30	chr21:46803694-46803744	HNPCEpiC	eye:	n/a
31	chr21:46816585-46816635	AoSMC	blood vessel:	n/a
32	chr21:46803694-46803744	AG10803	skin:	n/a
33	chr21:46824938-46824988	HMEC	breast:	n/a
34	chr21:46824938-46824988	HAEpiC	amniotic membrane:	n/a
35	chr21:46824732-46824782	AG04449	skin:	fetal
36	chr21:46810558-46810608	PFSK-1	brain:	n/a
37	chr21:46826053-46826103	IMR90	lung:	fetal
38	chr21:46827585-46827635	PFSK-1	brain:	n/a
39	chr21:46813145-46813195	SK-N-SH	brain:	n/a
40	chr21:46813145-46813195	HRE	kidney:	n/a
41	chr21:46824976-46825026	HMEC	breast:	n/a
42	chr21:46824278-46824328	A549	lung:	n/a
43	chr21:46812996-46813046	HEK293	kidney:	embryo
44	chr21:46823800-46823850	AG10803	skin:	n/a
45	chr21:46816585-46816635	HRPEpiC	eye:	n/a
46	chr21:46813036-46813086	SKMC	muscle:	n/a
47	chr21:46803694-46803744	GM12892	blood:	n/a
48	chr21:46803694-46803744	NHDF-neo	bronchial:	n/a
49	chr21:46823800-46823850	NH-A	brain:	n/a
50	chr21:46810558-46810608	NHDF-neo	bronchial:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:46717847..46720620-chr21:46827259..46829471,2	K562	blood:
2	chr21:46747203..46749019-chr21:46805036..46807278,2	MCF-7	breast:
3	chr21:46805229..46806997-chr21:46960424..46963294,3	MCF-7	breast:
4	chr21:46805280..46807894-chr21:46809723..46813387,4	K562	blood:
5	chr21:46775506..46777131-chr21:46825203..46827487,2	MCF-7	breast:
6	chr21:46815255..46817876-chr21:46826739..46829076,2	MCF-7	breast:
7	chr21:46706749..46715722-chr21:46804321..46810698,17	MCF-7	breast:
8	chr21:46815514..46817659-chr21:46961656..46963644,2	MCF-7	breast:
9	chr21:46806345..46808330-chr21:46821258..46823797,2	K562	blood:
10	chr21:46806431..46807304-chr21:46836007..46836928,4	MCF-7	breast:
11	chr21:46805692..46806328-chr21:46858998..46859922,2	MCF-7	breast:
12	chr21:46803552..46805474-chr21:46807144..46808933,2	K562	blood:
13	chr21:46796534..46798528-chr21:46800852..46803322,2	K562	blood:
14	chr21:46805077..46807655-chr21:46933676..46935286,2	MCF-7	breast:
15	chr21:46805652..46809834-chr21:46810119..46813196,4	MCF-7	breast:
16	chr21:46825636..46827405-chr21:46859445..46862204,2	MCF-7	breast:
17	chr17:79934314..79937296-chr21:46823774..46826459,2	MCF-7	breast:
18	chr21:46799462..46802195-chr21:46808207..46810384,2	K562	blood:
19	chr21:46803552..46805474-chr21:46807144..46808933,2	K562	blood:
20	chr21:46806273..46808920-chr21:46814989..46817504,2	MCF-7	breast:
21	chr21:46783218..46786077-chr21:46800000..46803414,3	MCF-7	breast:
22	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:
23	chr21:46805019..46806811-chr21:46809403..46811223,2	K562	blood:
24	chr21:46750038..46750654-chr21:46806423..46807075,3	MCF-7	breast:
25	chr21:46493214..46495791-chr21:46808265..46810578,2	K562	blood:
26	chr21:46805005..46807522-chr21:46972800..46975305,2	MCF-7	breast:
27	chr21:46795695..46798042-chr21:46828923..46832709,3	K562	blood:
28	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:
29	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
30	chr21:46746955..46747857-chr21:46806328..46807269,5	MCF-7	breast:
31	chr21:46827006..46828949-chr21:46880636..46883293,2	MCF-7	breast:
32	chr21:46748164..46750024-chr21:46812077..46813797,2	MCF-7	breast:
33	chr21:46739975..46742517-chr21:46825868..46828484,2	MCF-7	breast:
34	chr21:46711273..46715306-chr21:46820522..46825546,4	MCF-7	breast:
35	chr17:55974844..55977592-chr21:46822151..46823682,2	MCF-7	breast:
36	chr21:46806340..46808565-chr21:46858343..46860939,2	MCF-7	breast:
37	chr21:46800012..46801614-chr21:46802538..46805241,2	K562	blood:
38	chr21:46749807..46750973-chr21:46806205..46807264,4	MCF-7	breast:
39	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
40	chr21:46739981..46740615-chr21:46806328..46806943,2	MCF-7	breast:
41	chr21:46798667..46799336-chr21:46806462..46807020,2	MCF-7	breast:
42	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
43	chr21:46821773..46824180-chr6:13571587..13574488,2	MCF-7	breast:
44	chr21:46739862..46740787-chr21:46806359..46807280,6	MCF-7	breast:
45	chr21:46824862..46827274-chr21:46960738..46963702,3	MCF-7	breast:
46	chr21:46806783..46807357-chr21:46900948..46901827,2	MCF-7	breast:
47	chr21:46806364..46807229-chr21:46847333..46848279,7	MCF-7	breast:
48	chr21:46823352..46824906-chr21:46859362..46860942,2	MCF-7	breast:
49	chr21:46671592..46674476-chr21:46821725..46823483,2	MCF-7	breast:
50	chr21:46818747..46822859-chr21:46823423..46827083,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-2	chr21:46827301-46827535	ENSG00000224574.1
2	lnc-SLC19A1-2	chr21:46827923-46828014	ENSG00000224574.1
3	lnc-SLC19A1-2	chr21:46828372-46828478	ENSG00000224574.1

No data

Variant related genes	Relation type
COL18A1	TF binding region
ENSG00000228355	TF binding region
COL18A1	CpG island
ENSG00000228355	CpG island
ENSG00000160255	chromatin interactions
ENSG00000229382	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000228930	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000134759	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000141424	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000183535	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000169696	chromatin interactions
ENSG00000167508	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000186866	chromatin interactions

Extended variants
information (count: 1261 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6518237	chr21:46802952-46802953	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574861464	chr21:46802979-46802980	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371667149	chr21:46803004-46803005	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540790035	chr21:46803031-46803032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117199317	chr21:46803069-46803070	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34775053	chr21:46803097-46803098	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574869254	chr21:46803102-46803103	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542270640	chr21:46803145-46803146	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149683242	chr21:46803146-46803147	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572533092	chr21:46803165-46803166	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376759595	chr21:46803174-46803175	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77872354	chr21:46803218-46803219	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs6518238	chr21:46803229-46803230	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564675258	chr21:46803275-46803276	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531829690	chr21:46803292-46803293	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550437229	chr21:46803298-46803299	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529367340	chr21:46803303-46803304	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562073943	chr21:46803322-46803323	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528856552	chr21:46803344-46803345	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183991621	chr21:46803351-46803352	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373304342	chr21:46803358-46803359	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565343971	chr21:46803379-46803380	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73907481	chr21:46803380-46803381	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532804776	chr21:46803384-46803385	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546515259	chr21:46803385-46803386	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569798019	chr21:46803404-46803405	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375157855	chr21:46803414-46803415	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536883524	chr21:46803425-46803426	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555677642	chr21:46803462-46803463	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs115378055	chr21:46803530-46803531	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12627266	chr21:46803560-46803561	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75152729	chr21:46803601-46803602	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376580622	chr21:46803608-46803609	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546244833	chr21:46803617-46803618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145233218	chr21:46803619-46803620	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550332534	chr21:46803623-46803624	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576558819	chr21:46803625-46803626	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543707145	chr21:46803667-46803668	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372163826	chr21:46803669-46803670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577607969	chr21:46803677-46803678	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs529501212	chr21:46803680-46803681	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs78266634	chr21:46803695-46803696	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147652084	chr21:46803712-46803713	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374096410	chr21:46803715-46803716	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376442301	chr21:46803757-46803758	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546343113	chr21:46803763-46803764	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs551439955	chr21:46803768-46803769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142258934	chr21:46803795-46803796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530729535	chr21:46803805-46803806	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549160202	chr21:46803829-46803830	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46787600-46806800	Weak transcription	Right Atrium	heart
2	chr21:46793400-46806400	Weak transcription	Esophagus	oesophagus
3	chr21:46798200-46807600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:46799600-46803400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46799800-46803600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr21:46800200-46803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:46800200-46805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46800800-46805800	Weak transcription	Pancreas	Pancrea
9	chr21:46801200-46803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:46802000-46803000	Bivalent Enhancer	HepG2	liver
11	chr21:46802800-46803600	Flanking Active TSS	K562	blood
12	chr21:46802800-46804000	Enhancers	Fetal Muscle Leg	muscle
13	chr21:46802800-46808800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr21:46803000-46803600	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr21:46803000-46804000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46803200-46803400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr21:46803200-46803600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:46803200-46804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:46803200-46807400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46803400-46803600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr21:46803400-46803800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr21:46803400-46804000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr21:46803600-46803800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46803600-46804000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr21:46803600-46804000	Enhancers	K562	blood
26	chr21:46803600-46804200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:46803600-46804200	Flanking Active TSS	HepG2	liver
28	chr21:46803800-46804000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:46803800-46804000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:46803800-46804200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:46804000-46804400	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:46804000-46804400	Weak transcription	K562	blood
33	chr21:46804000-46805400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:46804200-46804400	Enhancers	HepG2	liver
35	chr21:46804200-46804600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:46804200-46804800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:46804200-46805400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr21:46804200-46808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:46804400-46804800	Bivalent Enhancer	HepG2	liver
40	chr21:46804400-46805200	Enhancers	Fetal Muscle Leg	muscle
41	chr21:46804400-46805400	Enhancers	K562	blood
42	chr21:46804400-46808800	Enhancers	Ovary	ovary
43	chr21:46804600-46804800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr21:46804600-46804800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr21:46804600-46805200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:46804600-46805200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:46804600-46805200	Enhancers	Fetal Lung	lung
48	chr21:46804600-46805600	Bivalent Enhancer	Placenta	Placenta
49	chr21:46804800-46805000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr21:46804800-46805000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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