Variant report

Variant	esv3374334
Chromosome Location	chr4:1105777-1108900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:1107126-1107605	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr4:1107286-1107524	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr4:1107251-1107567	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr4:1107172-1107723	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr4:1107089-1107606	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr4:1105980-1106130	BJ	skin:	n/a	n/a
7	E2F6	chr4:1107002-1107816	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
8	E2F6	chr4:1106984-1107740	A549	lung:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
9	E2F6	chr4:1106952-1107864	H1-hESC	embryonic stem cell:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
10	E2F6	chr4:1107066-1107636	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
11	E2F6	chr4:1106885-1107844	H1-hESC	embryonic stem cell:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
12	GABPA	chr4:1107039-1107672	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579
13	GTF2F1	chr4:1107080-1107580	H1-hESC	embryonic stem cell:	n/a	n/a
14	HA-E2F1	chr4:1107200-1107652	Hela-S3	cervix:	n/a	chr4:1107351-1107360 chr4:1107568-1107577 chr4:1107402-1107414
15	JUND	chr4:1107411-1107511	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr4:1106921-1107795	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
17	MAX	chr4:1107011-1107753	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
18	MAX	chr4:1107011-1107767	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
19	MAX	chr4:1107002-1107592	A549	lung:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
20	MAX	chr4:1107001-1107674	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107037-1107046 chr4:1107038-1107045
21	MAX	chr4:1107042-1107619	Hela-S3	cervix:	n/a	n/a
22	MAX	chr4:1107004-1107640	SK-N-SH	brain:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
23	MAX	chr4:1107018-1107613	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107037-1107046 chr4:1107038-1107045
24	MAX	chr4:1106901-1107793	H1-hESC	embryonic stem cell:	n/a	chr4:1107035-1107044 chr4:1107645-1107655 chr4:1107755-1107764 chr4:1107037-1107046 chr4:1107038-1107045
25	MAZ	chr4:1107321-1107589	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr4:1107303-1107574	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr4:1107360-1107418	Hela-S3	cervix:	n/a	n/a
28	MYC	chr4:1107446-1107565	H1-hESC	embryonic stem cell:	n/a	n/a
29	NRF1	chr4:1107200-1107543	Hela-S3	cervix:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
30	NRF1	chr4:1107177-1107563	H1-hESC	embryonic stem cell:	n/a	chr4:1107375-1107389 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364
31	NRF1	chr4:1107086-1107639	SK-N-SH	brain:	n/a	chr4:1107375-1107389 chr4:1107568-1107577 chr4:1107347-1107361 chr4:1107352-1107361 chr4:1107350-1107361 chr4:1107378-1107392 chr4:1107350-1107364 chr4:1107570-1107579
32	POLR2A	chr4:1107227-1107235	MCF-7	breast:	n/a	n/a
33	POLR2A	chr4:1107184-1107659	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:1107048-1107571	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr4:1107237-1107478	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr4:1107104-1107707	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr4:1107246-1107575	A549	lung:	n/a	n/a
38	POLR2A	chr4:1107195-1107601	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr4:1107140-1107607	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:1107236-1107239	MCF-7	breast:	n/a	n/a
41	POLR2A	chr4:1107147-1107576	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:1107140-1107645	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr4:1107355-1107488	A549	lung:	n/a	n/a
44	POLR2A	chr4:1107196-1107513	A549	lung:	n/a	n/a
45	POLR2A	chr4:1107109-1107275	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:1107243-1107603	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr4:1107248-1107259	MCF-7	breast:	n/a	n/a
48	POLR2A	chr4:1107222-1107223	MCF-7	breast:	n/a	n/a
49	POLR2A	chr4:1107217-1107342	A549	lung:	n/a	n/a
50	POLR2A	chr4:1107348-1107563	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1107259-1107309	AG04449	skin:	fetal
2	chr4:1107259-1107309	AG04449	skin:	fetal
3	chr4:1108671-1108721	PFSK-1	brain:	n/a
4	chr4:1107202-1107252	Hela-S3	cervix:	n/a
5	chr4:1107202-1107252	SAEC	small airway:	n/a
6	chr4:1108671-1108721	ovcar-3	ovarian:	n/a
7	chr4:1107512-1107562	H1-hESC	embryonic stem cell:	embryo
8	chr4:1107706-1107756	HRE	kidney:	n/a
9	chr4:1107495-1107545	SKMC	muscle:	n/a
10	chr4:1107259-1107309	K562	blood:	n/a
11	chr4:1107983-1108033	NT2-D1	testis:	n/a
12	chr4:1107585-1107635	SK-N-SH	brain:	n/a
13	chr4:1107983-1108033	HAEpiC	amniotic membrane:	n/a
14	chr4:1107202-1107252	HCF	heart:	n/a
15	chr4:1107720-1107770	HCT-116	colon:	n/a
16	chr4:1107706-1107756	SK-N-SH	brain:	n/a
17	chr4:1107259-1107309	GM19239	blood:	n/a
18	chr4:1107259-1107309	A549	lung:	n/a
19	chr4:1107983-1108033	SAEC	small airway:	n/a
20	chr4:1107495-1107545	ECC-1	luminal epithelium:	n/a
21	chr4:1107259-1107309	HepG2	liver:	n/a
22	chr4:1107259-1107309	Hela-S3	cervix:	n/a
23	chr4:1107259-1107309	SK-N-MC	brain:	n/a
24	chr4:1107706-1107756	NHDF-neo	bronchial:	n/a
25	chr4:1107495-1107545	AG10803	skin:	n/a
26	chr4:1107495-1107545	HCF	heart:	n/a
27	chr4:1107720-1107770	Hepatocyte	liver:	n/a
28	chr4:1107585-1107635	AG09319	gingival:	n/a
29	chr4:1107202-1107252	HMEC	breast:	n/a
30	chr4:1107259-1107309	ProgFib	skin:	n/a
31	chr4:1107495-1107545	U87	brain:	n/a
32	chr4:1107585-1107635	AG04450	lung:	fetal
33	chr4:1107512-1107562	PFSK-1	brain:	n/a
34	chr4:1107259-1107309	AG10803	skin:	n/a
35	chr4:1107202-1107252	HPAEpiC	pulmonary alveolar:	n/a
36	chr4:1107585-1107635	GM06990	blood:	n/a
37	chr4:1107495-1107545	IMR90	lung:	fetal
38	chr4:1107983-1108033	HUVEC	blood vessel:	n/a
39	chr4:1107202-1107252	HEEpiC	esophagus:	n/a
40	chr4:1107259-1107309	HCM	heart:	n/a
41	chr4:1107585-1107635	BE2_C	brain:	n/a
42	chr4:1108671-1108721	IMR90	lung:	fetal
43	chr4:1107585-1107635	PrEC	prostate:	n/a
44	chr4:1107202-1107252	A549	lung:	n/a
45	chr4:1107259-1107309	HRPEpiC	eye:	n/a
46	chr4:1107512-1107562	SK-N-SH_RA	brain:	n/a
47	chr4:1107259-1107309	MCF10A-Er-Src	breast:	n/a
48	chr4:1107202-1107252	T-47D	breast:	n/a
49	chr4:1107512-1107562	NHDF-neo	bronchial:	n/a
50	chr4:1107983-1108033	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
2	chr4:1100612..1103193-chr4:1103837..1105848,2	K562	blood:
3	chr4:1104788..1106753-chr4:1236973..1238872,2	K562	blood:
4	chr4:1108188..1111933-chr4:1241185..1244027,3	MCF-7	breast:
5	chr4:1106466..1109450-chr4:1112409..1114063,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFRL1-4	chr4:1107427-1107540	ENSG00000251652.1

Variant related genes	Relation type
RNF212	TF binding region
ENSG00000251652	TF binding region
ENSG00000212458	TF binding region
RNF212	CpG island
ENSG00000251652	CpG island
ENSG00000212458	CpG island
ENSG00000212458	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000196810	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536618243	chr4:1105820-1105821	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544252955	chr4:1105829-1105830	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548997727	chr4:1105851-1105852	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370278943	chr4:1105855-1105856	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536167245	chr4:1105856-1105857	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556535761	chr4:1105900-1105901	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553899918	chr4:1105939-1105940	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572317170	chr4:1105954-1105955	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149815059	chr4:1105958-1105959	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557827150	chr4:1105960-1105961	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576509556	chr4:1105962-1105963	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574797799	chr4:1105972-1105973	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562131642	chr4:1105980-1105981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573827911	chr4:1106085-1106086	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs537137630	chr4:1106186-1106187	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145764708	chr4:1106259-1106260	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559723166	chr4:1106278-1106279	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75881267	chr4:1106332-1106333	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34169869	chr4:1106394-1106395	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551628386	chr4:1106425-1106426	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529105560	chr4:1106476-1106477	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs374564704	chr4:1106493-1106494	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs112611497	chr4:1106560-1106561	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs10049610	chr4:1106612-1106613	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs10050240	chr4:1106615-1106616	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs10050241	chr4:1106625-1106626	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs563353957	chr4:1106739-1106740	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs111216168	chr4:1106775-1106776	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548674218	chr4:1106776-1106777	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs548356874	chr4:1106861-1106862	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs111155337	chr4:1106894-1106895	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs567255987	chr4:1106960-1106961	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs535732452	chr4:1106993-1106994	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs547676862	chr4:1106994-1106995	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs566080086	chr4:1107039-1107040	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs371907074	chr4:1107042-1107043	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs539623536	chr4:1107056-1107057	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs557964438	chr4:1107076-1107077	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs113708827	chr4:1107100-1107101	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs370399772	chr4:1107102-1107103	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs370216464	chr4:1107130-1107131	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs373243869	chr4:1107132-1107133	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs188658198	chr4:1107149-1107150	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375409179	chr4:1107153-1107154	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375249286	chr4:1107172-1107173	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs573990798	chr4:1107173-1107174	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375947137	chr4:1107185-1107186	Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs201230381	chr4:1107200-1107201	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs370590742	chr4:1107226-1107227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs78978823	chr4:1107245-1107246	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1094000-1105800	Weak transcription	Ovary	ovary
2	chr4:1102600-1105800	Enhancers	Pancreas	Pancrea
3	chr4:1104200-1105800	Enhancers	NHEK	skin
4	chr4:1104200-1107200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:1104400-1107000	Weak transcription	A549	lung
6	chr4:1104600-1106000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:1104600-1109600	Weak transcription	Fetal Kidney	kidney
8	chr4:1104800-1106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:1105600-1106000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:1105600-1106000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:1105600-1106000	Weak transcription	Hela-S3	cervix
12	chr4:1105600-1106400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:1105600-1107200	Weak transcription	HMEC	breast
14	chr4:1105800-1106000	Enhancers	Ovary	ovary
15	chr4:1105800-1106000	Flanking Active TSS	Pancreas	Pancrea
16	chr4:1105800-1106400	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr4:1106000-1106200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:1106000-1106200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:1106000-1106200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr4:1106000-1106200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:1106000-1106200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr4:1106000-1106200	Enhancers	Pancreas	Pancrea
23	chr4:1106000-1106200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr4:1106000-1106400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:1106000-1106400	Enhancers	Brain Anterior Caudate	brain
26	chr4:1106000-1106400	Flanking Active TSS	Ovary	ovary
27	chr4:1106000-1107200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:1106000-1108400	Active TSS	Hela-S3	cervix
29	chr4:1106200-1106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:1106200-1106400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:1106200-1106400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr4:1106200-1106400	Flanking Active TSS	Pancreas	Pancrea
33	chr4:1106200-1106400	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:1106200-1106400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr4:1106200-1108200	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:1106400-1106600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:1106400-1106600	Enhancers	Pancreas	Pancrea
38	chr4:1106400-1107200	Weak transcription	Brain Anterior Caudate	brain
39	chr4:1106400-1108000	Active TSS	Ovary	ovary
40	chr4:1106600-1107000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:1106600-1107000	Weak transcription	Pancreas	Pancrea
42	chr4:1106800-1107000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:1107000-1107200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr4:1107000-1107200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:1107000-1107200	Enhancers	Esophagus	oesophagus
46	chr4:1107000-1107200	Enhancers	Pancreas	Pancrea
47	chr4:1107000-1107200	Bivalent Enhancer	Spleen	Spleen
48	chr4:1107000-1107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:1107000-1107400	Active TSS	Lung	lung
50	chr4:1107000-1107600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links