Variant report

Variant	esv3440985
Chromosome Location	chr4:8238952-8243350
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	ARID3A	chr4:8240304-8240605	HepG2	liver:	n/a	n/a
2	BHLHE40	chr4:8241105-8241392	K562	blood:	n/a	n/a
3	CEBPB	chr4:8239639-8239992	Hela-S3	cervix:	n/a	chr4:8239801-8239812
4	CEBPB	chr4:8239686-8239976	IMR90	lung:	n/a	chr4:8239801-8239812
5	CEBPB	chr4:8239726-8239919	K562	blood:	n/a	chr4:8239801-8239812
6	CEBPB	chr4:8239678-8239982	HepG2	liver:	n/a	chr4:8239801-8239812
7	CEBPB	chr4:8239710-8239910	H1-hESC	embryonic stem cell:	n/a	chr4:8239801-8239812
8	CHD2	chr4:8240455-8240828	HepG2	liver:	n/a	n/a
9	CTCF	chr4:8240320-8240470	GM12873	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
10	CTCF	chr4:8240260-8240410	GM12875	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
11	CTCF	chr4:8240280-8240430	HMEC	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
12	CTCF	chr4:8240240-8240390	HRE	kidney:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
13	CTCF	chr4:8240340-8240490	GM12878	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
14	CTCF	chr4:8240240-8240390	AG09309	skin:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
15	CTCF	chr4:8240286-8240446	GM10248	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
16	CTCF	chr4:8241301-8241303	GM12891	blood:	n/a	n/a
17	CTCF	chr4:8240301-8240454	GM20000	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
18	CTCF	chr4:8240300-8240450	NB4	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
19	CTCF	chr4:8240325-8240476	GM10266	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
20	CTCF	chr4:8240320-8240470	HAc	cerebellar:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
21	CTCF	chr4:8240260-8240410	GM12865	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
22	CTCF	chr4:8243340-8243490	GM12873	blood:	n/a	n/a
23	CTCF	chr4:8240271-8240466	GM12892	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
24	CTCF	chr4:8241180-8241330	HepG2	liver:	n/a	n/a
25	CTCF	chr4:8240280-8240430	AoAF	blood vessel:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
26	CTCF	chr4:8240260-8240410	HPF	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
27	CTCF	chr4:8240123-8240532	H1-hESC	embryonic stem cell:	n/a	chr4:8240149-8240162 chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
28	CTCF	chr4:8240320-8240470	GM12872	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
29	CTCF	chr4:8240260-8240410	GM12866	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
30	CTCF	chr4:8240320-8240470	SAEC	small airway:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
31	CTCF	chr4:8240280-8240430	SK-N-SH_RA	brain:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
32	CTCF	chr4:8240320-8240470	RPTEC	kidney:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
33	CTCF	chr4:8240288-8240472	Hela-S3	cervix:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
34	CTCF	chr4:8240300-8240450	WI-38	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
35	CTCF	chr4:8241228-8241243	Fibrobl	skin:	n/a	n/a
36	CTCF	chr4:8240234-8240498	K562	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
37	CTCF	chr4:8240260-8240410	NHEK	skin:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
38	CTCF	chr4:8240152-8240616	MCF-7	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
39	CTCF	chr4:8240288-8240464	HepG2	liver:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
40	CTCF	chr4:8240269-8240489	MCF-7	breast:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
41	CTCF	chr4:8240281-8240454	SK-N-SH_RA	brain:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
42	CTCF	chr4:8240240-8240390	BJ	skin:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
43	CTCF	chr4:8240280-8240430	HepG2	liver:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
44	CTCF	chr4:8240260-8240410	NHLF	lung:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
45	CTCF	chr4:8240228-8240491	HepG2	liver:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
46	CTCF	chr4:8240320-8240470	HCM	heart:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
47	CTCF	chr4:8240260-8240410	GM12872	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
48	CTCF	chr4:8240280-8240430	Hela-S3	cervix:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
49	CTCF	chr4:8240300-8240450	GM12869	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365
50	CTCF	chr4:8240161-8240638	K562	blood:	n/a	chr4:8240350-8240368 chr4:8240345-8240366 chr4:8240356-8240365

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8239254-8239304	SK-N-SH_RA	brain:	n/a
2	chr4:8242745-8242795	HCPEpiC	choroid plexus:	n/a
3	chr4:8239254-8239304	HCM	heart:	n/a
4	chr4:8242745-8242795	AG10803	skin:	n/a
5	chr4:8239220-8239270	HAEpiC	amniotic membrane:	n/a
6	chr4:8242745-8242795	HRE	kidney:	n/a
7	chr4:8239303-8239353	T-47D	breast:	n/a
8	chr4:8242745-8242795	ECC-1	luminal epithelium:	n/a
9	chr4:8239254-8239304	NB4	blood:	n/a
10	chr4:8239254-8239304	PrEC	prostate:	n/a
11	chr4:8242745-8242795	HAEpiC	amniotic membrane:	n/a
12	chr4:8239220-8239270	AoSMC	blood vessel:	n/a
13	chr4:8239220-8239270	HRCEpiC	kidney:	n/a
14	chr4:8239303-8239353	SKMC	muscle:	n/a
15	chr4:8239220-8239270	HepG2	liver:	n/a
16	chr4:8239303-8239353	SK-N-SH	brain:	n/a
17	chr4:8239220-8239270	HCF	heart:	n/a
18	chr4:8239254-8239304	BJ	skin:	n/a
19	chr4:8239303-8239353	K562	blood:	n/a
20	chr4:8242745-8242795	SK-N-SH_RA	brain:	n/a
21	chr4:8239220-8239270	HEK293	kidney:	embryo
22	chr4:8239220-8239270	CMK	blood:	n/a
23	chr4:8239220-8239270	IMR90	lung:	fetal
24	chr4:8239254-8239304	MCF-7	breast:	n/a
25	chr4:8239303-8239353	GM06990	blood:	n/a
26	chr4:8239303-8239353	HEK293	kidney:	embryo
27	chr4:8239254-8239304	NH-A	brain:	n/a
28	chr4:8242745-8242795	AG09309	skin:	n/a
29	chr4:8239254-8239304	BE2_C	brain:	n/a
30	chr4:8239254-8239304	SKMC	muscle:	n/a
31	chr4:8239220-8239270	Hepatocyte	liver:	n/a
32	chr4:8242745-8242795	Hela-S3	cervix:	n/a
33	chr4:8239303-8239353	Jurkat	blood:	n/a
34	chr4:8239254-8239304	GM19239	blood:	n/a
35	chr4:8242745-8242795	HMEC	breast:	n/a
36	chr4:8242745-8242795	HEEpiC	esophagus:	n/a
37	chr4:8239220-8239270	Caco-2	colon:	n/a
38	chr4:8242745-8242795	HCM	heart:	n/a
39	chr4:8239303-8239353	A549	lung:	n/a
40	chr4:8239254-8239304	HCT-116	colon:	n/a
41	chr4:8239254-8239304	K562	blood:	n/a
42	chr4:8239254-8239304	HepG2	liver:	n/a
43	chr4:8239254-8239304	NT2-D1	testis:	n/a
44	chr4:8242745-8242795	GM12891	blood:	n/a
45	chr4:8239303-8239353	HMEC	breast:	n/a
46	chr4:8239254-8239304	HAEpiC	amniotic membrane:	n/a
47	chr4:8239220-8239270	Hela-S3	cervix:	n/a
48	chr4:8242745-8242795	HEK293	kidney:	embryo
49	chr4:8242745-8242795	BE2_C	brain:	n/a
50	chr4:8239303-8239353	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8178683..8179355-chr4:8239861..8240827,2	K562	blood:
2	chr4:8243135..8244560-chr4:8404576..8405520,11	K562	blood:
3	chr4:8178131..8179114-chr4:8239846..8240964,9	MCF-7	breast:
4	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
5	chr4:8230516..8235728-chr4:8236550..8239148,4	MCF-7	breast:
6	chr4:8243003..8245939-chr4:8248896..8251754,2	MCF-7	breast:
7	chr4:8201531..8203736-chr4:8237028..8240221,3	MCF-7	breast:
8	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
9	chr4:8178298..8179365-chr4:8239616..8240695,4	MCF-7	breast:
10	chr4:8189828..8190391-chr4:8240020..8240533,2	MCF-7	breast:
11	chr4:8177372..8179736-chr4:8243215..8245049,2	K562	blood:
12	chr4:8183544..8186316-chr4:8238695..8241218,2	MCF-7	breast:
13	chr4:8243346..8245051-chr4:8408250..8411036,2	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
SH3TC1	CpG island
ENSG00000125089	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143621459	chr4:8238961-8238962	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191086939	chr4:8238963-8238964	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73079782	chr4:8238979-8238980	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs578035166	chr4:8239024-8239025	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563050960	chr4:8239053-8239054	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530489144	chr4:8239080-8239081	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2891973	chr4:8239106-8239107	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554260370	chr4:8239122-8239123	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572665034	chr4:8239140-8239141	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200316354	chr4:8239146-8239147	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376524365	chr4:8239151-8239152	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201946657	chr4:8239153-8239154	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374408469	chr4:8239156-8239157	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs377718747	chr4:8239157-8239158	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371134417	chr4:8239162-8239163	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74870386	chr4:8239163-8239164	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573644896	chr4:8239166-8239167	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376117553	chr4:8239167-8239168	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4318631	chr4:8239174-8239175	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs370242209	chr4:8239181-8239182	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374654021	chr4:8239182-8239183	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530676145	chr4:8239194-8239195	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532965745	chr4:8239197-8239198	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368211394	chr4:8239201-8239202	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144003268	chr4:8239206-8239207	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564138568	chr4:8239214-8239215	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528362591	chr4:8239215-8239216	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6845630	chr4:8239218-8239219	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150501798	chr4:8239219-8239220	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372420176	chr4:8239221-8239222	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74479723	chr4:8239235-8239236	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150050649	chr4:8239236-8239237	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs145349743	chr4:8239241-8239242	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149203434	chr4:8239242-8239243	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533791145	chr4:8239254-8239255	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373290723	chr4:8239255-8239256	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144815690	chr4:8239259-8239260	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs147913231	chr4:8239268-8239269	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377508070	chr4:8239269-8239270	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs370698767	chr4:8239280-8239281	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546956493	chr4:8239289-8239290	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571519965	chr4:8239294-8239295	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539036596	chr4:8239295-8239296	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191214030	chr4:8239318-8239319	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374279230	chr4:8239331-8239332	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565837851	chr4:8239335-8239336	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371070384	chr4:8239345-8239346	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs151325767	chr4:8239349-8239350	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373689369	chr4:8239361-8239362	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147042422	chr4:8239368-8239369	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Oligozoospermia	20877625	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8228400-8240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:8228400-8240800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:8228400-8243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:8228800-8244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:8230600-8239400	Strong transcription	Fetal Intestine Small	intestine
6	chr4:8230600-8243800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:8230800-8240400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:8230800-8242800	Weak transcription	NHLF	lung
9	chr4:8230800-8244200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:8230800-8244200	Weak transcription	Left Ventricle	heart
11	chr4:8230800-8244200	Weak transcription	Right Atrium	heart
12	chr4:8231000-8239600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8231000-8241000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:8231000-8243800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:8231000-8243800	Weak transcription	Brain Angular Gyrus	brain
16	chr4:8231200-8239800	Weak transcription	A549	lung
17	chr4:8232000-8243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:8232200-8244200	Strong transcription	HUVEC	blood vessel
19	chr4:8232400-8241400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr4:8232600-8239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:8232600-8240000	Strong transcription	Placenta	Placenta
22	chr4:8232800-8239400	Strong transcription	Fetal Intestine Large	intestine
23	chr4:8232800-8241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:8232800-8242000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:8232800-8243800	Strong transcription	Lung	lung
26	chr4:8232800-8244200	Strong transcription	HMEC	breast
27	chr4:8233000-8240200	Strong transcription	Gastric	stomach
28	chr4:8233000-8243400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:8233000-8243800	Strong transcription	Liver	Liver
30	chr4:8233000-8244000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:8233200-8243800	Strong transcription	Fetal Stomach	stomach
32	chr4:8233800-8239400	Strong transcription	Spleen	Spleen
33	chr4:8234000-8239400	Strong transcription	Esophagus	oesophagus
34	chr4:8234000-8241800	Strong transcription	Adipose Nuclei	Adipose
35	chr4:8234000-8243200	Strong transcription	Pancreas	Pancrea
36	chr4:8234200-8239600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:8234200-8240400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:8234200-8241600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:8234200-8243800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:8234400-8239400	Weak transcription	Fetal Brain Male	brain
41	chr4:8234400-8243400	Strong transcription	Right Ventricle	heart
42	chr4:8234600-8239000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:8234600-8243600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:8234800-8239400	Strong transcription	Primary B cells from cord blood	blood
45	chr4:8234800-8241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:8234800-8241800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:8235800-8243600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:8236000-8239200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:8236000-8244200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:8236200-8239400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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