Variant report

Variant	esv2621756
Chromosome Location	chr6:28762692-28779791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:853)
CpG islands
(count:671)
Chromatin interactive
region (count:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:28777726-28777887	K562	blood:	n/a	n/a
2	ARID3A	chr6:28779758-28780087	K562	blood:	n/a	n/a
3	ARID3A	chr6:28770461-28770741	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:28770404-28770887	K562	blood:	n/a	n/a
5	ARID3A	chr6:28763610-28764071	K562	blood:	n/a	n/a
6	ARID3A	chr6:28775492-28775915	K562	blood:	n/a	n/a
7	ARID3A	chr6:28763574-28764023	HepG2	liver:	n/a	n/a
8	ATF1	chr6:28775513-28775854	K562	blood:	n/a	n/a
9	ATF1	chr6:28771747-28771919	K562	blood:	n/a	n/a
10	ATF1	chr6:28763618-28763987	K562	blood:	n/a	n/a
11	ATF1	chr6:28777822-28778148	K562	blood:	n/a	n/a
12	ATF1	chr6:28778534-28778777	K562	blood:	n/a	n/a
13	ATF1	chr6:28770452-28770723	K562	blood:	n/a	n/a
14	ATF1	chr6:28762398-28762773	K562	blood:	n/a	n/a
15	ATF2	chr6:28763620-28764042	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr6:28763561-28763996	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr6:28775485-28775878	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr6:28779511-28780188	K562	blood:	n/a	n/a
19	ATF3	chr6:28779489-28780170	A549	lung:	n/a	n/a
20	ATF3	chr6:28779571-28780204	A549	lung:	n/a	n/a
21	ATF3	chr6:28770191-28770826	K562	blood:	n/a	n/a
22	ATF3	chr6:28770218-28770915	A549	lung:	n/a	n/a
23	ATF3	chr6:28775382-28775972	HCT-116	colon:	n/a	n/a
24	ATF3	chr6:28775377-28775970	A549	lung:	n/a	n/a
25	ATF3	chr6:28775354-28776109	A549	lung:	n/a	n/a
26	ATF3	chr6:28763359-28764090	K562	blood:	n/a	n/a
27	ATF3	chr6:28779590-28780184	HCT-116	colon:	n/a	n/a
28	ATF3	chr6:28763298-28764145	A549	lung:	n/a	n/a
29	ATF3	chr6:28763426-28764070	HCT-116	colon:	n/a	n/a
30	ATF3	chr6:28763482-28764170	HCT-116	colon:	n/a	n/a
31	ATF3	chr6:28775351-28776014	K562	blood:	n/a	n/a
32	ATF3	chr6:28763329-28764114	A549	lung:	n/a	n/a
33	ATF3	chr6:28770324-28770803	HCT-116	colon:	n/a	n/a
34	ATF3	chr6:28770240-28770785	HCT-116	colon:	n/a	n/a
35	ATF3	chr6:28770153-28770948	A549	lung:	n/a	n/a
36	ATF3	chr6:28775486-28775995	HCT-116	colon:	n/a	n/a
37	ATF3	chr6:28779602-28780245	HCT-116	colon:	n/a	n/a
38	BATF	chr6:28775490-28775810	GM12878	blood:	n/a	n/a
39	BCL11A	chr6:28770522-28770819	GM12878	blood:	n/a	chr6:28770688-28770697
40	BDP1	chr6:28763601-28764051	Hela-S3	cervix:	n/a	n/a
41	BDP1	chr6:28779761-28780193	K562	blood:	n/a	n/a
42	BDP1	chr6:28775501-28775941	K562	blood:	n/a	n/a
43	BDP1	chr6:28763621-28764049	K562	blood:	n/a	n/a
44	BDP1	chr6:28779740-28780143	Hela-S3	cervix:	n/a	n/a
45	BDP1	chr6:28770463-28770856	Hela-S3	cervix:	n/a	n/a
46	BDP1	chr6:28775505-28775933	Hela-S3	cervix:	n/a	n/a
47	BDP1	chr6:28770461-28770892	K562	blood:	n/a	n/a
48	BHLHE40	chr6:28777770-28778045	K562	blood:	n/a	n/a
49	BHLHE40	chr6:28762434-28762748	K562	blood:	n/a	n/a
50	BHLHE40	chr6:28763665-28763926	HepG2	liver:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28778226-28778276	CMK	blood:	n/a
2	chr6:28778676-28778726	SK-N-MC	brain:	n/a
3	chr6:28778226-28778276	PANC-1	pancreas:	n/a
4	chr6:28770593-28770643	HCM	heart:	n/a
5	chr6:28778392-28778442	AG04449	skin:	fetal
6	chr6:28778582-28778632	PANC-1	pancreas:	n/a
7	chr6:28778382-28778432	HCF	heart:	n/a
8	chr6:28770593-28770643	K562	blood:	n/a
9	chr6:28778676-28778726	U87	brain:	n/a
10	chr6:28778392-28778442	HCT-116	colon:	n/a
11	chr6:28778121-28778171	BJ	skin:	n/a
12	chr6:28778392-28778442	HEEpiC	esophagus:	n/a
13	chr6:28778582-28778632	HAEpiC	amniotic membrane:	n/a
14	chr6:28778582-28778632	HUVEC	blood vessel:	n/a
15	chr6:28778676-28778726	AG04449	skin:	fetal
16	chr6:28778582-28778632	RPTEC	kidney:	n/a
17	chr6:28778195-28778245	SK-N-SH_RA	brain:	n/a
18	chr6:28778195-28778245	T-47D	breast:	n/a
19	chr6:28770593-28770643	GM12892	blood:	n/a
20	chr6:28778582-28778632	GM12878	blood:	n/a
21	chr6:28778195-28778245	AG10803	skin:	n/a
22	chr6:28778226-28778276	AG04449	skin:	fetal
23	chr6:28778582-28778632	Jurkat	blood:	n/a
24	chr6:28770623-28770673	BJ	skin:	n/a
25	chr6:28778382-28778432	HMEC	breast:	n/a
26	chr6:28778582-28778632	AG04450	lung:	fetal
27	chr6:28778676-28778726	AG09309	skin:	n/a
28	chr6:28770623-28770673	IMR90	lung:	fetal
29	chr6:28770623-28770673	RPTEC	kidney:	n/a
30	chr6:28778195-28778245	ovcar-3	ovarian:	n/a
31	chr6:28778382-28778432	HCT-116	colon:	n/a
32	chr6:28778392-28778442	AG09319	gingival:	n/a
33	chr6:28778676-28778726	Jurkat	blood:	n/a
34	chr6:28778582-28778632	HRE	kidney:	n/a
35	chr6:28778582-28778632	AoSMC	blood vessel:	n/a
36	chr6:28778226-28778276	AoSMC	blood vessel:	n/a
37	chr6:28770593-28770643	PrEC	prostate:	n/a
38	chr6:28778382-28778432	SKMC	muscle:	n/a
39	chr6:28778226-28778276	GM12878	blood:	n/a
40	chr6:28778124-28778174	HRCEpiC	kidney:	n/a
41	chr6:28778124-28778174	HCT-116	colon:	n/a
42	chr6:28770593-28770643	ECC-1	luminal epithelium:	n/a
43	chr6:28770593-28770643	HL-60	blood:	n/a
44	chr6:28778382-28778432	H1-hESC	embryonic stem cell:	embryo
45	chr6:28778676-28778726	PANC-1	pancreas:	n/a
46	chr6:28770623-28770673	H1-hESC	embryonic stem cell:	embryo
47	chr6:28778392-28778442	LNCaP	prostate:	n/a
48	chr6:28778392-28778442	MCF10A-Er-Src	breast:	n/a
49	chr6:28778091-28778141	HepG2	liver:	n/a
50	chr6:28778382-28778432	PrEC	prostate:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28761080..28764011-chr6:28767880..28769599,2	K562	blood:
2	chr6:28771451..28773263-chr6:28777101..28779175,2	K562	blood:
3	chr6:28779162..28781130-chr6:28862892..28865549,2	K562	blood:
4	chr6:28770520..28773672-chr6:28829844..28832870,3	K562	blood:
5	chr6:28746343..28748629-chr6:28776362..28778668,2	K562	blood:
6	chr6:28760359..28762539-chr6:28774291..28776179,2	K562	blood:
7	chr6:28739213..28740105-chr6:28777494..28778016,2	K562	blood:
8	chr6:28757752..28760408-chr6:28765977..28767794,2	K562	blood:
9	chr6:28769403..28772112-chr6:28910261..28912768,2	K562	blood:
10	chr6:28777118..28779341-chr6:28889220..28890745,2	MCF-7	breast:
11	chr6:28761882..28764605-chr6:28861705..28864953,3	K562	blood:
12	chr6:28762168..28764957-chr6:28971752..28974125,2	K562	blood:
13	chr6:28756573..28759569-chr6:28769791..28772080,4	K562	blood:
14	chr6:28687938..28689790-chr6:28777726..28779382,2	K562	blood:
15	chr6:28767356..28769263-chr6:28782865..28784537,2	K562	blood:
16	chr6:28774872..28779186-chr6:28780865..28786550,9	K562	blood:
17	chr6:28723125..28726078-chr6:28775767..28777359,2	K562	blood:
18	chr6:28775179..28778043-chr6:28889400..28891921,3	MCF-7	breast:
19	chr6:28772556..28774593-chr6:28785044..28786627,2	K562	blood:
20	chr6:28770558..28773254-chr6:28806737..28808772,2	K562	blood:
21	chr6:28768996..28771268-chr6:28774440..28778213,3	K562	blood:
22	chr6:28653637..28654159-chr6:28777644..28778612,2	MCF-7	breast:
23	chr6:28771451..28773263-chr6:28777101..28779175,2	K562	blood:
24	chr6:28692413..28694711-chr6:28778373..28780345,2	K562	blood:
25	chr6:28737526..28738316-chr6:28777463..28778342,2	K562	blood:
26	chr6:28691994..28695396-chr6:28761030..28763739,3	K562	blood:
27	chr6:28760359..28764219-chr6:28771578..28776179,5	K562	blood:
28	chr6:28768996..28771268-chr6:28774440..28778213,3	K562	blood:
29	chr6:28774860..28778003-chr6:28805367..28807894,3	K562	blood:
30	chr6:28761012..28764011-chr6:28768099..28770643,2	K562	blood:
31	chr6:28778307..28780155-chr6:28804697..28807128,2	K562	blood:
32	chr6:28769803..28772263-chr6:28862688..28865946,3	MCF-7	breast:
33	chr6:28771461..28773672-chr6:28829844..28832711,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM27-19	chr6:28770349-28770592	NONHSAT108485
2	lnc-TRIM27-18	chr6:28773744-28776603	NONHSAT108486

No data

Variant related genes	Relation type
ENSG00000265764	TF binding region
ENSG00000265764	CpG island
ENSG00000265764	chromatin interactions
ENSG00000225173	chromatin interactions
ENSG00000225595	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000224157	chromatin interactions
ENSG00000204709	chromatin interactions
ENSG00000197935	chromatin interactions

Extended variants
information (count: 698 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549050127	chr6:28762697-28762698	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76968147	chr6:28762712-28762713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528086742	chr6:28762744-28762745	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551126815	chr6:28762761-28762762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571496926	chr6:28762766-28762767	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536918961	chr6:28762808-28762809	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557239707	chr6:28762847-28762848	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs184380502	chr6:28762850-28762851	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148299655	chr6:28762865-28762866	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555429990	chr6:28762890-28762891	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572239896	chr6:28762904-28762905	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544406050	chr6:28762926-28762927	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541392890	chr6:28762934-28762935	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557836169	chr6:28762949-28762950	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189314438	chr6:28762984-28762985	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376470227	chr6:28763017-28763018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141446514	chr6:28763047-28763048	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9368575	chr6:28763048-28763049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529509755	chr6:28763116-28763117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533388046	chr6:28763213-28763214	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372984044	chr6:28763215-28763216	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559478810	chr6:28763216-28763217	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528204473	chr6:28763232-28763233	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147059510	chr6:28763307-28763308	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564691845	chr6:28763329-28763330	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138419812	chr6:28763347-28763348	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143977165	chr6:28763403-28763404	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567263011	chr6:28763464-28763465	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536022355	chr6:28763467-28763468	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546417066	chr6:28763523-28763524	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566351383	chr6:28763527-28763528	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534772166	chr6:28763567-28763568	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147303488	chr6:28763587-28763588	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139958777	chr6:28763638-28763639	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9468421	chr6:28763649-28763650	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs193244737	chr6:28763654-28763655	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557679521	chr6:28763659-28763660	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs185101905	chr6:28763669-28763670	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189501027	chr6:28763675-28763676	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568690180	chr6:28763689-28763690	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559958899	chr6:28763691-28763692	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548977310	chr6:28763704-28763705	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369824305	chr6:28763720-28763721	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544737947	chr6:28763723-28763724	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs149432497	chr6:28763730-28763731	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115174831	chr6:28763736-28763737	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs58640431	chr6:28763737-28763738	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs367902839	chr6:28763738-28763739	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs375328585	chr6:28763740-28763741	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114486173	chr6:28763742-28763743	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28759600-28763600	Weak transcription	Hela-S3	cervix
2	chr6:28761600-28762800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:28761600-28762800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:28761600-28763000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:28761600-28763000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:28761600-28763800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:28761600-28764600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:28761800-28762800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:28761800-28762800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:28761800-28762800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:28761800-28762800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:28761800-28762800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:28761800-28762800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:28761800-28762800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:28761800-28762800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:28761800-28762800	Bivalent/Poised TSS	NHLF	lung
17	chr6:28761800-28763000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:28761800-28763000	Active TSS	A549	lung
19	chr6:28761800-28763600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:28761800-28763600	Flanking Active TSS	K562	blood
21	chr6:28761800-28764200	Flanking Active TSS	HepG2	liver
22	chr6:28762000-28762800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:28762000-28762800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:28762000-28762800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr6:28762000-28762800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:28762000-28762800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:28762000-28762800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
28	chr6:28762000-28762800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr6:28762000-28762800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr6:28762000-28762800	Flanking Active TSS	Osteobl	bone
31	chr6:28762000-28763000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:28762200-28762800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:28762200-28762800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr6:28762400-28762800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:28762400-28762800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr6:28762400-28762800	Flanking Active TSS	HMEC	breast
37	chr6:28762400-28763200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
38	chr6:28762600-28762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:28762600-28762800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr6:28762600-28762800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:28762600-28762800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:28762600-28762800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:28762600-28762800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:28762600-28762800	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr6:28762600-28762800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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