Variant report

Variant	rs217188
Chromosome Location	chr10:116454750-116454751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:169)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:169 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr10:116454491-116454849	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr10:116454430-116454894	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:116454620-116454770	GM12869	blood:	n/a	n/a
4	CTCF	chr10:116454575-116454798	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:116454600-116454750	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr10:116454640-116454790	GM12878	blood:	n/a	n/a
7	CTCF	chr10:116454597-116454765	GM10248	blood:	n/a	n/a
8	RAD21	chr10:116454503-116454887	HepG2	liver:	n/a	n/a
9	CTCF	chr10:116454600-116454750	GM12875	blood:	n/a	n/a
10	CTCF	chr10:116454600-116454750	AoAF	blood vessel:	n/a	n/a
11	RAD21	chr10:116454449-116454923	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr10:116454268-116455065	HCT-116	colon:	n/a	n/a
13	SMC3	chr10:116454536-116454811	K562	blood:	n/a	n/a
14	RAD21	chr10:116454454-116454866	A549	lung:	n/a	n/a
15	CTCF	chr10:116454577-116454795	Spleen_OC	spleen:	n/a	n/a
16	SMC3	chr10:116454478-116454878	HepG2	liver:	n/a	n/a
17	CTCF	chr10:116454333-116455019	HCT-116	colon:	n/a	n/a
18	CTCF	chr10:116454600-116454750	AG09309	skin:	n/a	n/a
19	CTCF	chr10:116454603-116454785	Kidney_OC	kidney:	n/a	n/a
20	E2F4	chr10:116454588-116454785	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr10:116454537-116454806	GM12878	blood:	n/a	n/a
22	CTCF	chr10:116454566-116454784	MCF-7	breast:	n/a	n/a
23	ELF1	chr10:116454528-116454826	K562	blood:	n/a	n/a
24	SMC3	chr10:116454520-116454833	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr10:116454548-116454800	NHEK	skin:	n/a	n/a
26	RAD21	chr10:116454350-116454983	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr10:116454553-116454800	GM12891	blood:	n/a	n/a
28	CTCF	chr10:116454600-116454750	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr10:116454298-116455159	HCT-116	colon:	n/a	n/a
30	CTCF	chr10:116454640-116454790	HCFaa	heart:	n/a	n/a
31	CTCF	chr10:116454486-116454880	GM12878	blood:	n/a	n/a
32	CTCF	chr10:116454587-116454769	ProgFib	skin:	n/a	n/a
33	RAD21	chr10:116454396-116454964	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr10:116454600-116454750	HMF	breast:	n/a	n/a
35	CTCF	chr10:116454600-116454750	WERI-Rb-1	eye:	n/a	n/a
36	ELF1	chr10:116454526-116454835	HepG2	liver:	n/a	n/a
37	CTCF	chr10:116454600-116454750	NHDF-neo	bronchial:	n/a	n/a
38	RAD21	chr10:116454259-116455073	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr10:116454563-116454806	K562	blood:	n/a	n/a
40	CTCF	chr10:116454620-116454770	HRE	kidney:	n/a	n/a
41	CTCF	chr10:116454620-116454770	HCPEpiC	choroid plexus:	n/a	n/a
42	GTF2F1	chr10:116454654-116454838	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr10:116454560-116454795	HCT-116	colon:	n/a	chr10:116454617-116454636
44	CTCF	chr10:116454569-116454802	HepG2	liver:	n/a	n/a
45	TEAD4	chr10:116454463-116454928	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr10:116454600-116454750	HRE	kidney:	n/a	n/a
47	CTCF	chr10:116454620-116454770	GM12871	blood:	n/a	n/a
48	CTCF	chr10:116454600-116454750	GM12864	blood:	n/a	n/a
49	CTCF	chr10:116454600-116454750	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr10:116454620-116454770	HMF	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116310139..116311162-chr10:116454196..116455210,3	K562	blood:
2	chr10:116310216..116311064-chr10:116454596..116455099,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPIAP19	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11196856	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11196866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11196868	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11196870	0.92[EUR][1000 genomes]
rs11196880	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12768716	0.82[MEX][hapmap]
rs12782152	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs217193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs217195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs217196	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs217197	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2532819	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs808257	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs808260	0.94[EUR][1000 genomes]
rs808261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs808262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9421197	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116444400-116457200	Weak transcription	Esophagus	oesophagus
2	chr10:116445600-116455800	Weak transcription	Right Ventricle	heart
3	chr10:116446000-116459200	Weak transcription	Fetal Intestine Small	intestine
4	chr10:116446200-116456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:116448000-116455600	Weak transcription	Adipose Nuclei	Adipose
6	chr10:116448400-116455800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:116451000-116455600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:116451200-116464600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:116451800-116456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:116451800-116456600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:116451800-116456600	Weak transcription	NHEK	skin
12	chr10:116451800-116456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:116452000-116456800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:116452000-116456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:116452000-116456800	Weak transcription	NH-A	brain
16	chr10:116452200-116456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:116452200-116456000	Weak transcription	HMEC	breast
18	chr10:116452200-116456600	Weak transcription	Hela-S3	cervix
19	chr10:116452200-116456800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:116452800-116454800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:116453000-116454800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr10:116453000-116457200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:116453200-116454800	Enhancers	Primary T cells from cord blood	blood
24	chr10:116453200-116454800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr10:116453400-116454800	Enhancers	HSMMtube	muscle
26	chr10:116453600-116454800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:116453800-116455000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr10:116453800-116457600	Enhancers	Fetal Heart	heart
29	chr10:116454000-116454800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:116454000-116454800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:116454200-116455000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:116454200-116455600	Weak transcription	Left Ventricle	heart
33	chr10:116454200-116456600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:116454200-116456800	Weak transcription	Right Atrium	heart
35	chr10:116454400-116454800	Enhancers	HUVEC	blood vessel
36	chr10:116454400-116455000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:116454400-116455000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:116454400-116455000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr10:116454400-116455000	Enhancers	Liver	Liver
40	chr10:116454400-116456000	Weak transcription	HSMM	muscle
41	chr10:116454400-116456200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:116454400-116456600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:116454600-116454800	Enhancers	Fetal Muscle Trunk	muscle
44	chr10:116454600-116455000	Enhancers	Brain Cingulate Gyrus	brain
45	chr10:116454600-116455000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr10:116454600-116455000	Enhancers	Stomach Mucosa	stomach
47	chr10:116454600-116456800	Weak transcription	A549	lung

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