Variant report

Variant	nsv1005446
Chromosome Location	chr4:99988287-100121669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1624)
CpG islands
(count:1344)
Chromatin interactive
region (count:59)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1624 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:100012639-100012909	K562	blood:	n/a	n/a
2	ARID3A	chr4:100087752-100088164	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:100051750-100051887	K562	blood:	n/a	n/a
4	ARID3A	chr4:100063004-100063010	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:100078087-100079360	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:100065108-100065911	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:100011229-100011288	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:100089099-100089294	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:100080697-100081156	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:100039424-100039514	HepG2	liver:	n/a	n/a
11	ARID3A	chr4:99988625-99989117	HepG2	liver:	n/a	n/a
12	ARID3A	chr4:100009745-100010217	HepG2	liver:	n/a	n/a
13	ARID3A	chr4:100007380-100007763	HepG2	liver:	n/a	n/a
14	ATF1	chr4:100012530-100012781	K562	blood:	n/a	n/a
15	ATF2	chr4:100009560-100010260	GM12878	blood:	n/a	n/a
16	BATF	chr4:100113638-100113790	GM12878	blood:	n/a	n/a
17	BCL3	chr4:99988859-99989461	K562	blood:	n/a	n/a
18	BCLAF1	chr4:100009910-100010481	GM12878	blood:	n/a	n/a
19	BCLAF1	chr4:100009585-100010343	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:100009166-100011411	K562	blood:	n/a	n/a
21	BHLHE40	chr4:100009682-100010315	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:100009283-100010179	HepG2	liver:	n/a	n/a
23	BHLHE40	chr4:100009256-100009477	A549	lung:	n/a	n/a
24	BHLHE40	chr4:100078565-100079055	HepG2	liver:	n/a	n/a
25	BHLHE40	chr4:100009232-100009481	GM12878	blood:	n/a	n/a
26	BRCA1	chr4:100009644-100010307	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr4:100010098-100010118	HepG2	liver:	n/a	n/a
28	CBX3	chr4:100020470-100020967	K562	blood:	n/a	n/a
29	CBX3	chr4:100009688-100010254	K562	blood:	n/a	n/a
30	CCNT2	chr4:100009578-100010256	K562	blood:	n/a	n/a
31	CCNT2	chr4:100008541-100008782	K562	blood:	n/a	chr4:100008542-100008551
32	CCNT2	chr4:100010974-100011296	K562	blood:	n/a	n/a
33	CEBPB	chr4:100078582-100078960	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:100009963-100010262	K562	blood:	n/a	n/a
35	CEBPB	chr4:100082376-100082606	HepG2	liver:	n/a	n/a
36	CEBPB	chr4:100009224-100009596	A549	lung:	n/a	chr4:100009401-100009412 chr4:100009400-100009413
37	CEBPB	chr4:100101641-100101813	A549	lung:	n/a	chr4:100101697-100101708
38	CEBPB	chr4:100078242-100079073	HepG2	liver:	n/a	n/a
39	CEBPB	chr4:100111081-100111438	MCF-7	breast:	n/a	chr4:100111245-100111256
40	CEBPB	chr4:99995276-99995595	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:100009290-100009583	H1-hESC	embryonic stem cell:	n/a	chr4:100009401-100009412 chr4:100009400-100009413
42	CEBPB	chr4:100101627-100101836	HepG2	liver:	n/a	chr4:100101697-100101708
43	CEBPB	chr4:100008402-100008414	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:100111070-100111428	K562	blood:	n/a	chr4:100111245-100111256
45	CEBPB	chr4:100111062-100111435	HepG2	liver:	n/a	chr4:100111245-100111256
46	CEBPB	chr4:100111069-100111432	IMR90	lung:	n/a	chr4:100111245-100111256
47	CEBPB	chr4:100009333-100009471	HepG2	liver:	n/a	chr4:100009401-100009412 chr4:100009400-100009413
48	CEBPB	chr4:100078634-100078996	HepG2	liver:	n/a	n/a
49	CEBPB	chr4:100065361-100065625	IMR90	lung:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
50	CEBPB	chr4:100009269-100010225	HepG2	liver:	n/a	chr4:100009401-100009412 chr4:100009400-100009413

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100065546-100065596	ProgFib	skin:	n/a
2	chr4:100009900-100009950	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:100065546-100065596	ProgFib	skin:	n/a
4	chr4:100009900-100009950	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:100083331-100083381	GM12892	blood:	n/a
6	chr4:100009749-100009799	HUVEC	blood vessel:	n/a
7	chr4:100010258-100010308	GM19239	blood:	n/a
8	chr4:100006910-100006960	A549	lung:	n/a
9	chr4:99993536-99993586	BJ	skin:	n/a
10	chr4:100041888-100041938	ovcar-3	ovarian:	n/a
11	chr4:100006910-100006960	HUVEC	blood vessel:	n/a
12	chr4:100101289-100101339	HRE	kidney:	n/a
13	chr4:100025015-100025065	AG04449	skin:	fetal
14	chr4:100009986-100010036	ECC-1	luminal epithelium:	n/a
15	chr4:100010211-100010261	Jurkat	blood:	n/a
16	chr4:100038717-100038767	GM12891	blood:	n/a
17	chr4:100009986-100010036	HRCEpiC	kidney:	n/a
18	chr4:100009950-100010000	SK-N-MC	brain:	n/a
19	chr4:100009900-100009950	NHBE	bronchial:	n/a
20	chr4:100010211-100010261	U87	brain:	n/a
21	chr4:100010258-100010308	IMR90	lung:	fetal
22	chr4:100010060-100010110	AG09309	skin:	n/a
23	chr4:100010211-100010261	PFSK-1	brain:	n/a
24	chr4:100083121-100083171	PrEC	prostate:	n/a
25	chr4:100009900-100009950	SK-N-MC	brain:	n/a
26	chr4:100010005-100010055	HAEpiC	amniotic membrane:	n/a
27	chr4:100009900-100009950	AG09319	gingival:	n/a
28	chr4:100010258-100010308	HRE	kidney:	n/a
29	chr4:100065546-100065596	HL-60	blood:	n/a
30	chr4:100041888-100041938	HCM	heart:	n/a
31	chr4:100010082-100010132	ProgFib	skin:	n/a
32	chr4:100082970-100083020	HRCEpiC	kidney:	n/a
33	chr4:99993536-99993586	HAEpiC	amniotic membrane:	n/a
34	chr4:100010005-100010055	HEEpiC	esophagus:	n/a
35	chr4:100009950-100010000	SKMC	muscle:	n/a
36	chr4:100082970-100083020	Hepatocyte	liver:	n/a
37	chr4:100083331-100083381	Jurkat	blood:	n/a
38	chr4:100010060-100010110	HCM	heart:	n/a
39	chr4:100101289-100101339	PrEC	prostate:	n/a
40	chr4:100101289-100101339	BE2_C	brain:	n/a
41	chr4:100010211-100010261	NT2-D1	testis:	n/a
42	chr4:100065546-100065596	SK-N-SH	brain:	n/a
43	chr4:100101289-100101339	HRCEpiC	kidney:	n/a
44	chr4:100009490-100009540	PANC-1	pancreas:	n/a
45	chr4:100010005-100010055	BE2_C	brain:	n/a
46	chr4:100041888-100041938	Caco-2	colon:	n/a
47	chr4:100010060-100010110	U87	brain:	n/a
48	chr4:100009900-100009950	NB4	blood:	n/a
49	chr4:100009900-100009950	AG10803	skin:	n/a
50	chr4:100009749-100009799	AG09319	gingival:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:24236720..24237273-chr4:100009330..100009909,2	NB4	blood:
2	chr4:99849574..99853806-chr4:100008192..100011466,4	MCF-7	breast:
3	chr2:64068314..64068983-chr4:100009769..100010303,2	NB4	blood:
4	chr4:99914968..99916800-chr4:99989851..99992126,2	MCF-7	breast:
5	chr4:99915817..99917521-chr4:100020700..100022232,2	MCF-7	breast:
6	chr4:99951373..99953005-chr4:100007401..100010388,2	MCF-7	breast:
7	chr4:100009648..100010295-chr6:136610384..136610985,2	Hela-S3	cervix:
8	chr4:99994512..99996565-chr4:99998521..100000129,2	MCF-7	breast:
9	chr4:100007607..100009144-chr4:100870095..100871989,2	K562	blood:
10	chr4:100010297..100012013-chr4:100018638..100021523,2	K562	blood:
11	chr4:100008642..100013321-chr4:100020625..100023682,5	MCF-7	breast:
12	chr4:99987489..99989654-chr4:100009071..100011507,2	MCF-7	breast:
13	chr4:99916019..99918646-chr4:100083097..100084598,2	K562	blood:
14	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
15	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
16	chr4:100009622..100010292-chr7:30634153..30635050,2	Hela-S3	cervix:
17	chr4:99996810..99999762-chr4:100007793..100010371,3	K562	blood:
18	chr4:100010805..100012670-chr4:100870311..100872681,2	K562	blood:
19	chr4:99914784..99916943-chr4:100045840..100048250,2	K562	blood:
20	chr4:100062982..100065976-chr4:100067343..100070151,2	K562	blood:
21	chr4:99990201..99991770-chr4:100003753..100006415,2	K562	blood:
22	chr4:100008381..100011330-chr4:100056699..100058939,2	MCF-7	breast:
23	chr4:99984757..99987673-chr4:99997054..99999527,2	K562	blood:
24	chr4:99915265..99918330-chr4:100008518..100010769,3	K562	blood:
25	chr4:99984530..99987339-chr4:99990898..99992743,2	K562	blood:
26	chr4:100010072..100012637-chr4:100483853..100485997,3	K562	blood:
27	chr12:7052144..7053435-chr4:100009518..100010498,3	Hela-S3	cervix:
28	chr4:100009539..100010373-chrX:41193722..41194435,2	Hela-S3	cervix:
29	chr4:99955536..99957055-chr4:100010118..100011890,2	K562	blood:
30	chr4:100039211..100039845-chr4:100326145..100326879,2	MCF-7	breast:
31	chr4:100039143..100039863-chr4:100383697..100384671,5	MCF-7	breast:
32	chr4:100009811..100011847-chr4:100024562..100026344,2	MCF-7	breast:
33	chr4:99915328..99918402-chr4:100008331..100011431,5	MCF-7	breast:
34	chr4:99977327..99979910-chr4:99986082..99988500,2	K562	blood:
35	chr11:65189876..65190596-chr4:100009207..100010180,2	HCT-116	colon:
36	chr4:99915764..99917972-chr4:100008352..100010409,2	MCF-7	breast:
37	chr4:100069725..100072421-chr4:100081070..100082749,2	K562	blood:
38	chr16:31191097..31191842-chr4:100009488..100010016,2	Hela-S3	cervix:
39	chr4:99987489..99989654-chr4:100009071..100011507,2	MCF-7	breast:
40	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:
41	chr4:100010297..100012013-chr4:100018638..100021523,2	K562	blood:
42	chr4:100039119..100039756-chr4:100378505..100379028,2	MCF-7	breast:
43	chr4:99915853..99918198-chr4:100001178..100002788,2	MCF-7	breast:
44	chr4:99988180..99990204-chr4:99991784..99994054,2	K562	blood:
45	chr4:100038972..100039679-chr4:100326321..100327345,4	K562	blood:
46	chr4:100010287..100011807-chr4:100330778..100333619,2	MCF-7	breast:
47	chr4:99985895..99987706-chr4:99994039..99996345,2	K562	blood:
48	chr4:99994512..99996565-chr4:99998521..100000129,2	MCF-7	breast:
49	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
50	chr4:100008381..100011330-chr4:100056699..100058939,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-6	chr4:100101303-100101330	l_2690_chr4:100101302-100104555_testes
2	lnc-ADH4-1	chr4:100081671-100082422	NONHSAT097522
3	lnc-METAP1-3	chr4:100054706-100054956	ENSG00000246090
4	lnc-METAP1-6	chr4:100103643-100103769	l_2690_chr4:100101302-100104555_testes
5	lnc-METAP1-3	chr4:100109802-100110012	ENSG00000246090
6	lnc-ADH4-1	chr4:100081751-100082804	NONHSAT097523
7	lnc-METAP1-3	chr4:100010011-100010435	NONHSAT097519
8	lnc-METAP1-3	chr4:100082941-100083061	ENSG00000246090
9	lnc-ADH5-1	chr4:99988407-99989276	ENSG00000272777.1
10	lnc-METAP1-3	chr4:100010008-100010435	ENSG00000246090
11	lnc-METAP1-3	chr4:100023514-100023816	NONHSAT097519
12	lnc-METAP1-3	chr4:100075702-100078736	ENSG00000246090
13	lnc-METAP1-3	chr4:100010102-100010435	ENSG00000246090
14	lnc-ADH4-1	chr4:100082094-100082802	NONHSAT097524
15	lnc-METAP1-3	chr4:100023919-100023944	ENSG00000246090
16	lnc-METAP1-3	chr4:100023919-100023944	NONHSAT097519
17	lnc-METAP1-3	chr4:100082967-100083061	ENSG00000246090
18	lnc-METAP1-3	chr4:100023514-100023816	ENSG00000246090
19	lnc-METAP1-6	chr4:100104128-100104555	l_2690_chr4:100101302-100104555_testes

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ADH5	hsa-miR-155-5p	chr4:99993587-99993605

Variant related genes	Relation type
ADH5	TF binding region
PCNAP1	TF binding region
ADH4	TF binding region
ENSG00000272777	TF binding region
ENSG00000246090	TF binding region
ADH5	CpG island
PCNAP1	CpG island
ADH4	CpG island
ENSG00000272777	CpG island
ENSG00000246090	CpG island
ENSG00000272777	chromatin interactions
ENSG00000164031	chromatin interactions
ENSG00000196295	chromatin interactions
ENSG00000240972	chromatin interactions
ENSG00000138823	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000106105	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000198099	chromatin interactions
ENSG00000145331	chromatin interactions
ENSG00000249065	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000263923	chromatin interactions
ENSG00000238449	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000245322	chromatin interactions

Extended variants
information (count: 5016 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:5016 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370379130	chr4:99988309-99988310	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs139385836	chr4:99988346-99988347	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs145669157	chr4:99988347-99988348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs554608466	chr4:99988405-99988406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs139841566	chr4:99988413-99988414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs115385628	chr4:99988414-99988415	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs531212981	chr4:99988433-99988434	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs138994691	chr4:99988451-99988452	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs10611922	chr4:99988454-99988455	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs185957104	chr4:99988507-99988508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs11459701	chr4:99988510-99988511	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs535127380	chr4:99988525-99988526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs7664906	chr4:99988567-99988568	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145911404	chr4:99988578-99988579	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs59281400	chr4:99988650-99988651	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1230154	chr4:99988659-99988660	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs529699553	chr4:99988666-99988667	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs548850768	chr4:99988679-99988680	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs115079944	chr4:99988693-99988694	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs17595186	chr4:99988713-99988714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs190152737	chr4:99988746-99988747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs570570126	chr4:99988980-99988981	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs537949323	chr4:99989007-99989008	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs576295294	chr4:99989010-99989011	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs549906788	chr4:99989012-99989013	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs568433149	chr4:99989025-99989026	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs535514356	chr4:99989048-99989049	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs140914753	chr4:99989055-99989056	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs17028473	chr4:99989113-99989114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539108224	chr4:99989128-99989129	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
31	rs533934897	chr4:99989173-99989174	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
32	rs144850173	chr4:99989250-99989251	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
33	rs1230155	chr4:99989259-99989260	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs62325241	chr4:99989284-99989285	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs145744487	chr4:99989316-99989317	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs574354786	chr4:99989319-99989320	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs541485081	chr4:99989323-99989324	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs181046327	chr4:99989352-99989353	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs369185895	chr4:99989365-99989366	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs576581570	chr4:99989370-99989371	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs527985374	chr4:99989376-99989377	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs545944568	chr4:99989387-99989388	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs115878705	chr4:99989395-99989396	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs531827213	chr4:99989423-99989424	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs56979744	chr4:99989439-99989440	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540733929	chr4:99989441-99989442	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs568487604	chr4:99989519-99989520	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs559060066	chr4:99989569-99989570	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs148961356	chr4:99989577-99989578	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs185459255	chr4:99989583-99989584	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1633 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:99956200-99995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:99971000-99988800	Weak transcription	Fetal Brain Male	brain
5	chr4:99971800-99991600	Weak transcription	Brain Anterior Caudate	brain
6	chr4:99971800-99997600	Weak transcription	Spleen	Spleen
7	chr4:99974000-99993000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:99976000-99989800	Weak transcription	Fetal Brain Female	brain
9	chr4:99976400-99992800	Weak transcription	Aorta	Aorta
10	chr4:99977200-99994400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:99977400-99991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:99977400-99992800	Weak transcription	Brain Substantia Nigra	brain
13	chr4:99977400-99994800	Weak transcription	Right Atrium	heart
14	chr4:99977400-99996600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:99977400-99996800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:99977400-99997000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
18	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:99979800-99992800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:99979800-99994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:99980000-99992600	Weak transcription	Colonic Mucosa	Colon
23	chr4:99980000-99993000	Weak transcription	Ovary	ovary
24	chr4:99980000-99995000	Weak transcription	Small Intestine	intestine
25	chr4:99980000-99997000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:99980200-99993000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:99980400-99991400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:99981000-99992400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:99981200-99992400	Weak transcription	Brain Germinal Matrix	brain
30	chr4:99981200-99997000	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:99982000-99990000	Weak transcription	Placenta	Placenta
32	chr4:99982400-99995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:99982400-99997000	Weak transcription	Hela-S3	cervix
34	chr4:99982400-100000400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:99982600-99991600	Weak transcription	NHLF	lung
36	chr4:99982600-99992000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:99982600-99992400	Weak transcription	NHEK	skin
38	chr4:99982600-99992600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:99982600-99996000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:99982800-99989800	Weak transcription	Fetal Stomach	stomach
41	chr4:99982800-99993000	Weak transcription	Left Ventricle	heart
42	chr4:99982800-99996000	Weak transcription	Gastric	stomach
43	chr4:99982800-100000200	Weak transcription	Psoas Muscle	Psoas
44	chr4:99983000-99991600	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:99983000-100004600	Weak transcription	Pancreas	Pancrea
46	chr4:99983200-99992400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:99983200-99992800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:99983200-100000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:99983400-99989200	Weak transcription	Fetal Muscle Trunk	muscle

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