Variant report

Variant	rs10807697
Chromosome Location	chr7:65416170-65416171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65338343..65340268-chr7:65414719..65416455,2	K562	blood:
2	chr7:65337107..65340268-chr7:65414236..65416219,3	K562	blood:

Variant related genes	Relation type
ENSG00000196715	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10229450	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10279841	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1167384	0.80[EUR][1000 genomes]
rs1167385	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1167386	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763147	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs11768292	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11770828	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs12670952	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698512	0.87[ASN][1000 genomes]
rs13237956	0.84[EUR][1000 genomes]
rs1631091	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1701751	0.89[EUR][1000 genomes]
rs1701757	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1701760	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723268	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723275	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1829943	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs1880556	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008188	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462573	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2658585	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2658587	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2690442	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2692056	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2939548	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2946579	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2949690	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2949692	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3201569	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34973832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135885	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35850374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4467826	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718288	0.82[EUR][1000 genomes]
rs55773927	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55796207	0.83[EUR][1000 genomes]
rs56028712	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62470893	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66552782	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945322	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954920	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6955582	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709604	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736270	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7383796	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7791814	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7809991	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781143	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781144	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781145	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs781152	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9530	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv966831	chr7:65415065-65428348	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10807697	RP4-756H11.3	cis	Artery Aorta	GTEx
rs10807697	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs10807697	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs10807697	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs10807697	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10807697	RP4-756H11.3	cis	Thyroid	GTEx
rs10807697	RP4-756H11.3	cis	Artery Tibial	GTEx
rs10807697	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs10807697	RP4-756H11.3	cis	lung	GTEx
rs10807697	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs10807697	RP4-756H11.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
7	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
8	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
13	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
14	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
15	chr7:65390600-65423800	Weak transcription	Gastric	stomach
16	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
20	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung
21	chr7:65396600-65418600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:65396800-65416800	Weak transcription	Hela-S3	cervix
23	chr7:65396800-65420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:65397400-65419600	Weak transcription	Left Ventricle	heart
25	chr7:65399200-65425000	Weak transcription	Small Intestine	intestine
26	chr7:65399800-65419600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:65400200-65420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:65400800-65420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:65401000-65417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:65401200-65420000	Weak transcription	HUVEC	blood vessel
31	chr7:65401200-65423800	Weak transcription	Spleen	Spleen
32	chr7:65401400-65425000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:65401800-65425000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:65402000-65420200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:65402000-65424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:65402000-65425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:65402200-65419000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:65402400-65419400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:65402800-65417800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:65403800-65419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:65403800-65419600	Weak transcription	Osteobl	bone
42	chr7:65404000-65418800	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:65404000-65420400	Weak transcription	HSMM	muscle
44	chr7:65404200-65417800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:65404200-65418400	Weak transcription	K562	blood
46	chr7:65404200-65418800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:65404400-65416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:65404400-65419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:65404400-65419000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:65404400-65419000	Weak transcription	Lung	lung

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