Variant report

Variant	rs3757793
Chromosome Location	chr7:127225780-127225781
allele	C/T
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	JUN	chr7:127224806-127227054	K562	blood:	n/a	chr7:127225673-127225682 chr7:127225672-127225685
2	REST	chr7:127225027-127226295	H1-neurons	neurons:	n/a	chr7:127225530-127225548 chr7:127225553-127225563
3	IRF1	chr7:127225410-127226069	K562	blood:	n/a	chr7:127225718-127225732 chr7:127225693-127225707 chr7:127225457-127225471
4	POLR2A	chr7:127225225-127225973	A549	lung:	n/a	n/a
5	HDAC2	chr7:127225201-127225975	MCF-7	breast:	n/a	n/a
6	E2F6	chr7:127225586-127225965	K562	blood:	n/a	chr7:127225779-127225790 chr7:127225672-127225681 chr7:127225674-127225683
7	ATF3	chr7:127225450-127225878	K562	blood:	n/a	chr7:127225670-127225683 chr7:127225662-127225682 chr7:127225672-127225683 chr7:127225672-127225685 chr7:127225674-127225684 chr7:127225674-127225681 chr7:127225670-127225685 chr7:127225747-127225756 chr7:127225674-127225684 chr7:127225673-127225681 chr7:127225673-127225693 chr7:127225673-127225684 chr7:127225671-127225684
8	POLR2A	chr7:127225198-127226000	MCF-7	breast:	n/a	n/a
9	EP300	chr7:127225389-127225845	SK-N-SH_RA	brain:	n/a	chr7:127225425-127225441
10	SRF	chr7:127225492-127225862	K562	blood:	n/a	chr7:127225745-127225755
11	MYC	chr7:127225312-127226059	K562	blood:	n/a	chr7:127225576-127225585
12	POLR2A	chr7:127225270-127226268	PBDE	blood:	n/a	n/a
13	WRNIP1	chr7:127225583-127225974	GM12878	blood:	n/a	n/a
14	RFX5	chr7:127225194-127225858	Hela-S3	cervix:	n/a	n/a
15	HMGN3	chr7:127225224-127225963	K562	blood:	n/a	n/a
16	POLR2A	chr7:127225240-127225917	GM12878	blood:	n/a	n/a
17	CREB1	chr7:127225259-127225937	ECC-1	luminal epithelium:	n/a	chr7:127225671-127225684
18	TBP	chr7:127225419-127226029	GM12878	blood:	n/a	n/a
19	CREB1	chr7:127225194-127226008	HepG2	liver:	n/a	chr7:127225671-127225684
20	IRF1	chr7:127225419-127225826	K562	blood:	n/a	chr7:127225718-127225732 chr7:127225693-127225707 chr7:127225457-127225471
21	CREB1	chr7:127225076-127226137	K562	blood:	n/a	chr7:127225671-127225684
22	ETS1	chr7:127225364-127225837	A549	lung:	n/a	chr7:127225697-127225708 chr7:127225659-127225675
23	SIX5	chr7:127225525-127225816	A549	lung:	n/a	n/a
24	ARID3A	chr7:127225401-127225871	HepG2	liver:	n/a	n/a
25	HEY1	chr7:127225213-127226013	K562	blood:	n/a	chr7:127225674-127225683 chr7:127225672-127225681
26	JUND	chr7:127225391-127225986	H1-hESC	embryonic stem cell:	n/a	chr7:127225673-127225682
27	MXI1	chr7:127225381-127225967	HepG2	liver:	n/a	n/a
28	EP300	chr7:127225410-127226019	GM12878	blood:	n/a	chr7:127225425-127225441
29	YY1	chr7:127225269-127225796	GM12891	blood:	n/a	chr7:127225555-127225569 chr7:127225564-127225578 chr7:127225338-127225347 chr7:127225686-127225700
30	ELF1	chr7:127224681-127225962	GM12878	blood:	n/a	chr7:127225456-127225468 chr7:127225455-127225464
31	POLR2A	chr7:127225325-127225829	GM12892	blood:	n/a	n/a
32	SP1	chr7:127225328-127226067	A549	lung:	n/a	chr7:127225458-127225467 chr7:127225695-127225707 chr7:127225718-127225730 chr7:127225695-127225706 chr7:127225696-127225705 chr7:127225718-127225729 chr7:127225697-127225706 chr7:127225457-127225469 chr7:127225718-127225730 chr7:127225459-127225468 chr7:127225695-127225707 chr7:127225457-127225469
33	POLR2A	chr7:127225264-127226046	MCF-7	breast:	n/a	n/a
34	CREB1	chr7:127225142-127226070	HepG2	liver:	n/a	chr7:127225671-127225684
35	POLR2A	chr7:127225251-127226176	U87	brain:	n/a	n/a
36	POLR2A	chr7:127225346-127225962	GM18526	blood:	n/a	n/a
37	HEY1	chr7:127225399-127225850	HepG2	liver:	n/a	chr7:127225674-127225683 chr7:127225672-127225681
38	CEBPB	chr7:127225482-127225921	K562	blood:	n/a	n/a
39	CCNT2	chr7:127225324-127225919	K562	blood:	n/a	chr7:127225435-127225444
40	YY1	chr7:127225172-127226010	K562	blood:	n/a	chr7:127225555-127225569 chr7:127225564-127225578 chr7:127225338-127225347 chr7:127225686-127225700
41	POLR2A	chr7:127225350-127225937	A549	lung:	n/a	n/a
42	POLR2A	chr7:127225377-127225909	SK-N-SH	brain:	n/a	n/a
43	BACH1	chr7:127225520-127225876	H1-hESC	embryonic stem cell:	n/a	n/a
44	PML	chr7:127225270-127225977	K562	blood:	n/a	n/a
45	KAP1	chr7:127225513-127225843	U2OS	brain:	n/a	n/a
46	ELF1	chr7:127225387-127225904	A549	lung:	n/a	chr7:127225456-127225468 chr7:127225455-127225464
47	POU2F2	chr7:127225394-127226004	GM12891	blood:	n/a	n/a
48	GABPA	chr7:127225262-127225815	HepG2	liver:	n/a	chr7:127225300-127225309
49	SRF	chr7:127225225-127225967	MCF-7	breast:	n/a	chr7:127225745-127225755
50	GABPA	chr7:127225091-127226070	SK-N-SH	brain:	n/a	chr7:127225300-127225309

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127225750-127225800	AG04449	skin:	fetal
2	chr7:127225750-127225800	NHDF-neo	bronchial:	n/a
3	chr7:127225777-127225827	SKMC	muscle:	n/a
4	chr7:127225750-127225800	AG09309	skin:	n/a
5	chr7:127225777-127225827	BE2_C	brain:	n/a
6	chr7:127225777-127225827	T-47D	breast:	n/a
7	chr7:127225777-127225827	AoSMC	blood vessel:	n/a
8	chr7:127225752-127225802	Hepatocyte	liver:	n/a
9	chr7:127225750-127225800	MCF10A-Er-Src	breast:	n/a
10	chr7:127225750-127225800	GM06990	blood:	n/a
11	chr7:127225750-127225800	ECC-1	luminal epithelium:	n/a
12	chr7:127225777-127225827	Hepatocyte	liver:	n/a
13	chr7:127225750-127225800	HEEpiC	esophagus:	n/a
14	chr7:127225777-127225827	ovcar-3	ovarian:	n/a
15	chr7:127225752-127225802	BE2_C	brain:	n/a
16	chr7:127225750-127225800	AoSMC	blood vessel:	n/a
17	chr7:127225750-127225800	HepG2	liver:	n/a
18	chr7:127225752-127225802	A549	lung:	n/a
19	chr7:127225777-127225827	Jurkat	blood:	n/a
20	chr7:127225777-127225827	ECC-1	luminal epithelium:	n/a
21	chr7:127225752-127225802	Hela-S3	cervix:	n/a
22	chr7:127225777-127225827	SK-N-MC	brain:	n/a
23	chr7:127225752-127225802	ovcar-3	ovarian:	n/a
24	chr7:127225750-127225800	SK-N-SH	brain:	n/a
25	chr7:127225752-127225802	AG04449	skin:	fetal
26	chr7:127225777-127225827	PANC-1	pancreas:	n/a
27	chr7:127225752-127225802	RPTEC	kidney:	n/a
28	chr7:127225750-127225800	Hepatocyte	liver:	n/a
29	chr7:127225750-127225800	NT2-D1	testis:	n/a
30	chr7:127225752-127225802	H1-hESC	embryonic stem cell:	embryo
31	chr7:127225750-127225800	BJ	skin:	n/a
32	chr7:127225752-127225802	GM12891	blood:	n/a
33	chr7:127225777-127225827	HRPEpiC	eye:	n/a
34	chr7:127225750-127225800	HEK293	kidney:	embryo
35	chr7:127225777-127225827	HRCEpiC	kidney:	n/a
36	chr7:127225750-127225800	IMR90	lung:	fetal
37	chr7:127225750-127225800	HRCEpiC	kidney:	n/a
38	chr7:127225752-127225802	NHBE	bronchial:	n/a
39	chr7:127225750-127225800	PANC-1	pancreas:	n/a
40	chr7:127225752-127225802	T-47D	breast:	n/a
41	chr7:127225777-127225827	SK-N-SH_RA	brain:	n/a
42	chr7:127225750-127225800	GM19239	blood:	n/a
43	chr7:127225777-127225827	NHDF-neo	bronchial:	n/a
44	chr7:127225750-127225800	HMEC	breast:	n/a
45	chr7:127225752-127225802	AG09319	gingival:	n/a
46	chr7:127225752-127225802	CMK	blood:	n/a
47	chr7:127225777-127225827	RPTEC	kidney:	n/a
48	chr7:127225752-127225802	SAEC	small airway:	n/a
49	chr7:127225752-127225802	SKMC	muscle:	n/a
50	chr7:127225752-127225802	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
2	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
3	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
4	chr7:127224289..127226040-chr7:127290840..127293019,2	MCF-7	breast:
5	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
6	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
7	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

Variant related genes	Relation type
GCC1	TF binding region
ARF5	TF binding region
GCC1	CpG island
ARF5	CpG island
ENSG00000048405	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1090682	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1090683	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2073561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327510	0.82[EUR][1000 genomes]
rs327511	0.82[EUR][1000 genomes]
rs327512	0.82[EUR][1000 genomes]
rs327516	0.83[EUR][1000 genomes]
rs327521	0.81[EUR][1000 genomes]
rs3735642	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791028	0.84[ASN][1000 genomes]
rs594141	0.87[EUR][1000 genomes]
rs62481355	0.84[ASN][1000 genomes]
rs67719649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698406	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712697	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712698	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712699	0.83[EUR][1000 genomes]
rs712700	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712701	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712703	0.87[EUR][1000 genomes]
rs712704	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72607743	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806192	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806193	0.82[EUR][1000 genomes]
rs806195	0.84[EUR][1000 genomes]
rs806196	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs806214	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806215	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806216	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806218	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806219	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989099	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127223800-127225800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr7:127224200-127225800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:127224400-127225800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:127224400-127225800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:127224400-127225800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:127224400-127226000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:127224400-127226000	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr7:127224600-127226200	Active TSS	Aorta	Aorta
9	chr7:127224600-127226400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:127224800-127225800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:127224800-127225800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:127224800-127225800	Active TSS	HSMM	muscle
13	chr7:127224800-127225800	Active TSS	NHDF-Ad	bronchial
14	chr7:127224800-127226000	Active TSS	A549	lung
15	chr7:127225000-127225800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:127225000-127225800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127225000-127225800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:127225000-127225800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:127225000-127225800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:127225000-127225800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127225000-127225800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:127225000-127225800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127225000-127225800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:127225000-127225800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:127225000-127225800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:127225000-127225800	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr7:127225000-127225800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:127225000-127225800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:127225000-127225800	Active TSS	Fetal Intestine Small	intestine
30	chr7:127225000-127225800	Active TSS	Fetal Kidney	kidney
31	chr7:127225000-127225800	Active TSS	Lung	lung
32	chr7:127225000-127225800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:127225000-127225800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:127225000-127225800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:127225000-127225800	Active TSS	GM12878-XiMat	blood
36	chr7:127225000-127225800	Active TSS	Hela-S3	cervix
37	chr7:127225000-127225800	Active TSS	HMEC	breast
38	chr7:127225000-127225800	Active TSS	NHEK	skin
39	chr7:127225000-127225800	Active TSS	NHLF	lung
40	chr7:127225000-127225800	Active TSS	Osteobl	bone
41	chr7:127225000-127226000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127225000-127226000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:127225000-127226000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:127225000-127226000	Active TSS	Brain Angular Gyrus	brain
45	chr7:127225000-127226000	Active TSS	Colon Smooth Muscle	Colon
46	chr7:127225000-127226000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:127225000-127226000	Active TSS	Fetal Intestine Large	intestine
48	chr7:127225000-127226000	Active TSS	Gastric	stomach
49	chr7:127225000-127226000	Active TSS	Left Ventricle	heart
50	chr7:127225000-127226000	Active TSS	Small Intestine	intestine

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