Variant report

Variant	rs757197
Chromosome Location	chr7:111845968-111845969
allele	A/G
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	CREB1	chr7:111845317-111847490	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:111845903-111847363	GM12892	blood:	n/a	n/a
3	RAD21	chr7:111845303-111846879	HepG2	liver:	n/a	chr7:111845990-111846002
4	UBTF	chr7:111845823-111847177	K562	blood:	n/a	n/a
5	NRF1	chr7:111845464-111847542	SK-N-SH	brain:	n/a	chr7:111846495-111846504 chr7:111846080-111846089
6	SMARCC1	chr7:111845184-111847358	Hela-S3	cervix:	n/a	chr7:111846552-111846561
7	TCF7L2	chr7:111845762-111847130	HCT-116	colon:	n/a	n/a
8	RAD21	chr7:111845698-111846154	HepG2	liver:	n/a	chr7:111845990-111846002
9	CTCF	chr7:111845900-111846050	SK-N-SH_RA	brain:	n/a	n/a
10	TEAD4	chr7:111845403-111846786	SK-N-SH	brain:	n/a	chr7:111845633-111845642
11	CTBP2	chr7:111845133-111847412	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr7:111845928-111847348	H1-neurons	neurons:	n/a	n/a
13	SMARCB1	chr7:111845245-111847283	Hela-S3	cervix:	n/a	chr7:111846552-111846561
14	REST	chr7:111843971-111847587	H1-neurons	neurons:	n/a	chr7:111846001-111846011 chr7:111846491-111846504 chr7:111845994-111846012
15	TCF7L2	chr7:111845211-111847344	Hela-S3	cervix:	n/a	chr7:111845244-111845254
16	PBX3	chr7:111845693-111846908	SK-N-SH	brain:	n/a	n/a
17	RAD21	chr7:111845280-111847526	IMR90	lung:	n/a	chr7:111845990-111846002
18	HCFC1	chr7:111845609-111847418	K562	blood:	n/a	n/a
19	EP300	chr7:111845942-111846951	ECC-1	luminal epithelium:	n/a	chr7:111846578-111846585 chr7:111846683-111846696
20	E2F6	chr7:111845737-111846827	K562	blood:	n/a	chr7:111846495-111846504 chr7:111846722-111846731
21	YY1	chr7:111845655-111846048	SK-N-SH_RA	brain:	n/a	chr7:111845904-111845918
22	POLR2A	chr7:111845904-111845999	A549	lung:	n/a	n/a
23	MAX	chr7:111845773-111847521	K562	blood:	n/a	chr7:111846494-111846504
24	PBX3	chr7:111845596-111846890	SK-N-SH	brain:	n/a	n/a
25	MXI1	chr7:111844822-111847472	IMR90	lung:	n/a	n/a
26	CHD2	chr7:111845775-111847234	GM12878	blood:	n/a	n/a
27	ZNF143	chr7:111845894-111846992	GM12878	blood:	n/a	chr7:111846538-111846557 chr7:111846552-111846561 chr7:111846494-111846504 chr7:111846543-111846561 chr7:111846550-111846559 chr7:111846520-111846538
28	SIN3AK20	chr7:111845749-111846939	PANC-1	pancreas:	n/a	n/a
29	SMARCC2	chr7:111845175-111847431	Hela-S3	cervix:	n/a	chr7:111846552-111846561
30	RAD21	chr7:111844971-111847005	H1-hESC	embryonic stem cell:	n/a	chr7:111845990-111846002
31	CHD2	chr7:111845939-111846656	HepG2	liver:	n/a	n/a
32	ELF1	chr7:111845758-111847245	GM12878	blood:	n/a	chr7:111846876-111846885 chr7:111846576-111846585 chr7:111846575-111846586 chr7:111846575-111846586
33	CCNT2	chr7:111845632-111847527	K562	blood:	n/a	n/a
34	RAD21	chr7:111845579-111846065	HepG2	liver:	n/a	chr7:111845990-111846002
35	MXI1	chr7:111843467-111848079	SK-N-SH	brain:	n/a	n/a
36	MAX	chr7:111845247-111847048	SK-N-SH	brain:	n/a	chr7:111846494-111846504
37	ZBTB7A	chr7:111845215-111847079	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3AK20	chr7:111845693-111846029	A549	lung:	n/a	n/a
39	CTCF	chr7:111845820-111845970	HCPEpiC	choroid plexus:	n/a	n/a
40	RAD21	chr7:111845587-111846700	A549	lung:	n/a	chr7:111845990-111846002
41	RAD21	chr7:111845573-111846963	H1-hESC	embryonic stem cell:	n/a	chr7:111845990-111846002
42	MAX	chr7:111845523-111846781	H1-hESC	embryonic stem cell:	n/a	chr7:111846494-111846504
43	REST	chr7:111845729-111846038	SK-N-SH	brain:	n/a	chr7:111846001-111846011 chr7:111845994-111846012
44	EBF1	chr7:111845859-111846202	GM12878	blood:	n/a	n/a
45	MAX	chr7:111845717-111846086	GM12878	blood:	n/a	n/a
46	TCF12	chr7:111845699-111846920	ECC-1	luminal epithelium:	n/a	n/a
47	SIN3AK20	chr7:111845014-111846996	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZBTB7A	chr7:111845788-111846899	K562	blood:	n/a	n/a
49	CHD2	chr7:111845394-111847393	Hela-S3	cervix:	n/a	n/a
50	RFX5	chr7:111845258-111847494	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111578985..111581380-chr7:111844507..111846039,2	MCF-7	breast:
2	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:

Variant related genes	Relation type
ZNF277	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12154681	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56696536	0.82[AMR][1000 genomes]
rs727807	0.92[AMR][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:111843200-111846800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:111843400-111847200	Active TSS	Brain Hippocampus Middle	brain
3	chr7:111843400-111847400	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:111843400-111847800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:111843600-111847200	Active TSS	Brain Angular Gyrus	brain
6	chr7:111843600-111847600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:111843600-111847800	Active TSS	NHLF	lung
8	chr7:111843600-111848400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:111843800-111846000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:111843800-111847200	Active TSS	Brain Substantia Nigra	brain
11	chr7:111843800-111847200	Active TSS	Fetal Lung	lung
12	chr7:111843800-111847400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr7:111843800-111847400	Active TSS	NHEK	skin
14	chr7:111843800-111847600	Active TSS	Lung	lung
15	chr7:111844000-111846000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:111844000-111847200	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr7:111844000-111847400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:111844000-111847600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr7:111844000-111847600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:111844000-111847600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:111844000-111847600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:111844000-111847600	Active TSS	Left Ventricle	heart
23	chr7:111844000-111847800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:111844000-111847800	Active TSS	NHDF-Ad	bronchial
25	chr7:111844000-111848000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:111844000-111848000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:111844200-111847200	Active TSS	HUVEC	blood vessel
28	chr7:111844200-111847400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:111844200-111847400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:111844200-111847400	Active TSS	Brain Anterior Caudate	brain
31	chr7:111844200-111847400	Active TSS	A549	lung
32	chr7:111844200-111847600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:111844200-111847600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:111844200-111847600	Active TSS	Pancreas	Pancrea
35	chr7:111844200-111847600	Active TSS	Right Ventricle	heart
36	chr7:111844200-111847800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:111844200-111847800	Active TSS	Aorta	Aorta
38	chr7:111844200-111848200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:111844400-111846200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:111844400-111847400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:111844400-111847400	Bivalent/Poised TSS	HepG2	liver
42	chr7:111844400-111847600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:111844400-111847600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:111844400-111847600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:111844400-111847600	Active TSS	Esophagus	oesophagus
46	chr7:111844400-111847600	Active TSS	Ovary	ovary
47	chr7:111844400-111847600	Active TSS	Psoas Muscle	Psoas
48	chr7:111844400-111847600	Active TSS	NH-A	brain
49	chr7:111844400-111847800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:111844400-111847800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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