Variant report

Variant	rs10262872
Chromosome Location	chr7:105517893-105517894
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	UBTF	chr7:105517793-105518103	K562	blood:	n/a	n/a
2	HDAC2	chr7:105517412-105518111	HepG2	liver:	n/a	n/a
3	TEAD4	chr7:105517739-105518264	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:105516696-105517967	HepG2	liver:	n/a	n/a
5	CTCF	chr7:105517880-105518030	HBMEC	blood vessel:	n/a	n/a
6	MAZ	chr7:105515967-105518051	IMR90	lung:	n/a	chr7:105516075-105516085
7	MAX	chr7:105516552-105518120	A549	lung:	n/a	n/a
8	CTCF	chr7:105517800-105517950	WERI-Rb-1	eye:	n/a	n/a
9	POLR2A	chr7:105516708-105517990	A549	lung:	n/a	n/a
10	ZBTB7A	chr7:105517065-105517921	K562	blood:	n/a	chr7:105517770-105517778
11	CTCF	chr7:105516529-105518431	A549	lung:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
12	HMGN3	chr7:105516526-105518000	K562	blood:	n/a	n/a
13	POLR2A	chr7:105517413-105517965	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr7:105517832-105517982	HepG2	liver:	n/a	n/a
15	CTCF	chr7:105517860-105518010	AG09319	gingival:	n/a	n/a
16	ZBTB7A	chr7:105517032-105518082	ECC-1	luminal epithelium:	n/a	chr7:105518037-105518046 chr7:105517770-105517778 chr7:105517924-105517933
17	RCOR1	chr7:105517832-105518026	K562	blood:	n/a	n/a
18	ZNF263	chr7:105516539-105518531	HEK293-T-REx	kidney:	n/a	chr7:105516799-105516808 chr7:105516796-105516805
19	CTCF	chr7:105517840-105517990	HCPEpiC	choroid plexus:	n/a	n/a
20	POLR2A	chr7:105516576-105518053	HepG2	liver:	n/a	n/a
21	CTCF	chr7:105516497-105518709	SK-N-SH	brain:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
22	CTCF	chr7:105517860-105518010	SK-N-SH_RA	brain:	n/a	n/a
23	MAX	chr7:105517648-105518051	Hela-S3	cervix:	n/a	n/a
24	HNF4G	chr7:105517290-105518125	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849
25	CTCF	chr7:105517820-105517970	HCFaa	heart:	n/a	n/a
26	CHD2	chr7:105516882-105517893	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:105517823-105517950	A549	lung:	n/a	n/a
28	CTCF	chr7:105517820-105517970	HEEpiC	esophagus:	n/a	n/a
29	MXI1	chr7:105515339-105518134	IMR90	lung:	n/a	n/a
30	CTCF	chr7:105517860-105518010	HCM	heart:	n/a	n/a
31	MAX	chr7:105517734-105518089	HepG2	liver:	n/a	n/a
32	RAD21	chr7:105517582-105518091	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB7A	chr7:105516949-105517968	K562	blood:	n/a	chr7:105517770-105517778 chr7:105517924-105517933
34	MAX	chr7:105516457-105518027	K562	blood:	n/a	n/a
35	RAD21	chr7:105517701-105518137	SK-N-SH_RA	brain:	n/a	n/a
36	POLR2A	chr7:105517699-105517977	HepG2	liver:	n/a	n/a
37	CTCF	chr7:105517840-105517990	BE2_C	brain:	n/a	n/a
38	CTCF	chr7:105517820-105517970	HRE	kidney:	n/a	n/a
39	CTCF	chr7:105517760-105517910	HVMF	connective:	n/a	n/a
40	CTCF	chr7:105517880-105518030	HMF	breast:	n/a	n/a
41	CTCF	chr7:105517860-105518010	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr7:105517800-105517950	SAEC	small airway:	n/a	n/a
43	RAD21	chr7:105517715-105518063	H1-hESC	embryonic stem cell:	n/a	n/a
44	HNF4G	chr7:105517436-105518131	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849
45	CTCF	chr7:105517867-105518003	A549	lung:	n/a	n/a
46	RAD21	chr7:105517725-105518103	IMR90	lung:	n/a	n/a
47	POLR2A	chr7:105517629-105518037	HepG2	liver:	n/a	n/a
48	MAX	chr7:105516327-105518096	MCF-7	breast:	n/a	n/a
49	CTCF	chr7:105517820-105517970	HepG2	liver:	n/a	n/a
50	MAZ	chr7:105516537-105518029	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105516810..105518543-chr7:105750750..105753587,2	K562	blood:
2	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:
3	chr7:102715242..102717974-chr7:105515259..105517980,2	MCF-7	breast:

Variant related genes	Relation type
ATXN7L1	TF binding region
ENSG00000170632	Chromatin interaction
ENSG00000008282	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10278160	0.83[CHB][hapmap];0.84[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17152230	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17152231	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152247	0.88[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105515600-105519600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:105515800-105518000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:105515800-105518200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:105515800-105518600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:105515800-105518800	Active TSS	Brain Angular Gyrus	brain
6	chr7:105516000-105518000	Active TSS	Brain Anterior Caudate	brain
7	chr7:105516000-105518000	Active TSS	HSMMtube	muscle
8	chr7:105516000-105518200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:105516000-105518200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:105516000-105518200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:105516000-105518200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:105516000-105518200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:105516000-105518200	Active TSS	Fetal Intestine Large	intestine
14	chr7:105516000-105518200	Active TSS	Fetal Intestine Small	intestine
15	chr7:105516000-105518200	Active TSS	Fetal Lung	lung
16	chr7:105516000-105518200	Active TSS	A549	lung
17	chr7:105516000-105518400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:105516000-105518400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:105516000-105518400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:105516000-105518400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:105516000-105518600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:105516000-105518600	Active TSS	Colonic Mucosa	Colon
23	chr7:105516000-105518600	Active TSS	Fetal Kidney	kidney
24	chr7:105516000-105518600	Active TSS	NHDF-Ad	bronchial
25	chr7:105516000-105518800	Active TSS	Colon Smooth Muscle	Colon
26	chr7:105516000-105518800	Active TSS	Stomach Smooth Muscle	stomach
27	chr7:105516000-105519000	Active TSS	NHLF	lung
28	chr7:105516000-105519200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:105516000-105519400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:105516000-105519600	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:105516200-105518200	Active TSS	Ovary	ovary
32	chr7:105516200-105518200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:105516200-105518200	Active TSS	Right Ventricle	heart
34	chr7:105516200-105518400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr7:105516200-105518400	Active TSS	Psoas Muscle	Psoas
36	chr7:105516200-105518800	Active TSS	Stomach Mucosa	stomach
37	chr7:105516200-105518800	Active TSS	Osteobl	bone
38	chr7:105516400-105518000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:105516400-105518000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:105516400-105518000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:105516400-105518000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:105516400-105518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:105516400-105518000	Active TSS	Esophagus	oesophagus
44	chr7:105516400-105518000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:105516400-105518000	Active TSS	Fetal Brain Female	brain
46	chr7:105516400-105518000	Active TSS	Lung	lung
47	chr7:105516400-105518000	Active TSS	Small Intestine	intestine
48	chr7:105516400-105518200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:105516400-105518200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:105516400-105518200	Active TSS	Aorta	Aorta

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