Variant report

Variant	rs3757676
Chromosome Location	chr7:97502035-97502036
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	ATF1	chr7:97501385-97502089	K562	blood:	n/a	n/a
2	POLR2A	chr7:97500925-97502049	K562	blood:	n/a	n/a
3	CREB1	chr7:97501207-97502061	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:97500930-97502205	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr7:97501202-97502260	SK-N-MC	brain:	n/a	n/a
6	SIN3AK20	chr7:97501042-97502094	SK-N-SH	brain:	n/a	n/a
7	HCFC1	chr7:97500916-97502198	Hela-S3	cervix:	n/a	n/a
8	EP300	chr7:97501101-97502147	ECC-1	luminal epithelium:	n/a	chr7:97501620-97501636 chr7:97501808-97501824
9	CEBPB	chr7:97501282-97502047	K562	blood:	n/a	n/a
10	STAT3	chr7:97501969-97502171	GM12878	blood:	n/a	n/a
11	ZMIZ1	chr7:97501212-97502110	K562	blood:	n/a	n/a
12	MAX	chr7:97500869-97502084	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
13	E2F4	chr7:97501332-97502090	MCF10A-Er-Src	breast:	n/a	chr7:97501524-97501534
14	POLR2A	chr7:97501022-97502055	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr7:97500970-97502097	A549	lung:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
16	ZNF384	chr7:97501278-97502117	K562	blood:	n/a	n/a
17	POLR2A	chr7:97501377-97502077	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:97500994-97502038	H1-hESC	embryonic stem cell:	n/a	n/a
19	HEY1	chr7:97501053-97502053	K562	blood:	n/a	n/a
20	IRF1	chr7:97501243-97502069	K562	blood:	n/a	chr7:97501815-97501829 chr7:97501778-97501785 chr7:97501486-97501500
21	CTCF	chr7:97501900-97502050	MCF-7	breast:	n/a	chr7:97501956-97501964
22	POLR2A	chr7:97501004-97502131	K562	blood:	n/a	n/a
23	REST	chr7:97500756-97502281	H1-neurons	neurons:	n/a	chr7:97501410-97501428 chr7:97501591-97501604
24	SIN3AK20	chr7:97500988-97502300	MCF-7	breast:	n/a	n/a
25	MAFK	chr7:97501517-97502085	K562	blood:	n/a	n/a
26	JUND	chr7:97501074-97502099	K562	blood:	n/a	n/a
27	EP300	chr7:97500840-97502132	K562	blood:	n/a	chr7:97501620-97501636 chr7:97501808-97501824
28	GABPA	chr7:97500940-97502158	MCF-7	breast:	n/a	n/a
29	MAX	chr7:97500993-97502050	ECC-1	luminal epithelium:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
30	POLR2A	chr7:97501233-97502172	SK-N-SH	brain:	n/a	n/a
31	MAZ	chr7:97500969-97502118	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
32	MXI1	chr7:97501206-97502065	GM12878	blood:	n/a	n/a
33	GTF2F1	chr7:97501253-97502108	K562	blood:	n/a	n/a
34	MAX	chr7:97500931-97502105	H1-hESC	embryonic stem cell:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
35	MAX	chr7:97500966-97502106	MCF-7	breast:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
36	MYC	chr7:97501136-97502090	MCF10A-Er-Src	breast:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
37	CHD2	chr7:97501212-97502059	Hela-S3	cervix:	n/a	chr7:97501623-97501633
38	TCF7L2	chr7:97501308-97502096	HCT-116	colon:	n/a	n/a
39	RCOR1	chr7:97500979-97502215	K562	blood:	n/a	n/a
40	UBTF	chr7:97500830-97502093	K562	blood:	n/a	n/a
41	BHLHE40	chr7:97501010-97502256	K562	blood:	n/a	chr7:97501392-97501408
42	CEBPB	chr7:97501334-97502046	K562	blood:	n/a	n/a
43	RFX5	chr7:97501430-97502092	GM12878	blood:	n/a	n/a
44	ZEB1	chr7:97500951-97502046	HepG2	liver:	n/a	chr7:97501461-97501470 chr7:97501658-97501665 chr7:97501145-97501152 chr7:97501655-97501668
45	ELF1	chr7:97500998-97502055	MCF-7	breast:	n/a	n/a
46	GTF2F1	chr7:97501239-97502142	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr7:97501684-97502052	GM12878	blood:	n/a	chr7:97501956-97501964 chr7:97501873-97501886
48	POLR2A	chr7:97500723-97502174	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:97500872-97502163	HCT-116	colon:	n/a	n/a
50	TCF12	chr7:97501211-97502040	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97501305..97502999-chr7:98028998..98030520,2	K562	blood:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000006453	Chromatin interaction
ENSG00000243554	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10234646	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234781	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261245	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261265	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10263979	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237288	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757674	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62478704	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808810	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv981552	chr7:97500692-97502806	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97500000-97502200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:97500000-97502400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97500200-97502200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:97500200-97502200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:97500400-97502200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:97500400-97502200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:97500400-97502200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:97500400-97502200	Active TSS	HSMMtube	muscle
9	chr7:97500400-97502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:97500400-97502400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:97500400-97502400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:97500600-97502200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:97500600-97502200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:97500600-97502200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:97500600-97502200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:97500600-97502200	Active TSS	NHLF	lung
17	chr7:97500600-97502400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:97500600-97502400	Active TSS	Colon Smooth Muscle	Colon
19	chr7:97500800-97502200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:97500800-97502200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:97500800-97502200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:97500800-97502200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:97500800-97502200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:97500800-97502200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:97500800-97502200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:97500800-97502200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:97500800-97502200	Active TSS	Brain Germinal Matrix	brain
28	chr7:97500800-97502200	Active TSS	Right Ventricle	heart
29	chr7:97500800-97502400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:97500800-97502400	Active TSS	Brain Anterior Caudate	brain
31	chr7:97501000-97502200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:97501000-97502200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:97501000-97502200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr7:97501000-97502200	Active TSS	Aorta	Aorta
35	chr7:97501000-97502200	Active TSS	Brain Substantia Nigra	brain
36	chr7:97501000-97502200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr7:97501000-97502200	Active TSS	Fetal Kidney	kidney
38	chr7:97501000-97502200	Active TSS	Right Atrium	heart
39	chr7:97501000-97502200	Active TSS	GM12878-XiMat	blood
40	chr7:97501000-97502400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr7:97501000-97502400	Active TSS	Fetal Brain Female	brain
42	chr7:97501000-97502400	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:97501200-97502200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:97501200-97502200	Active TSS	Ovary	ovary
45	chr7:97501200-97502200	Active TSS	NHDF-Ad	bronchial
46	chr7:97501200-97502200	Active TSS	Osteobl	bone
47	chr7:97501400-97502200	Active TSS	Primary T cells from cord blood	blood
48	chr7:97501400-97502200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:97501400-97502200	Active TSS	Fetal Brain Male	brain
50	chr7:97501400-97502200	Bivalent/Poised TSS	Fetal Stomach	stomach

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