Variant report

Variant	rs11773661
Chromosome Location	chr7:100073069-100073070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100072849..100075078-chr7:100283693..100285830,2	K562	blood:
2	chr7:100072419..100074734-chr7:100181421..100183838,2	K562	blood:
3	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
4	chr7:100072183..100074781-chr7:100075477..100078153,2	K562	blood:
5	chr7:100072681..100074818-chr7:100183478..100186083,2	MCF-7	breast:
6	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
7	chr7:100072828..100074767-chr7:100164156..100166742,3	K562	blood:
8	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
9	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
10	chr7:100071827..100074750-chr7:100153997..100156937,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000241357	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 45 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1000215	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10085549	0.85[CEU][hapmap]
rs10241492	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs1073	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559117	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760536	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11761253	0.85[CEU][hapmap]
rs11761426	0.85[CEU][hapmap]
rs11761624	1.00[ASN][1000 genomes]
rs11761725	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761784	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11763511	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764818	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765869	0.85[CEU][hapmap]
rs11766202	1.00[ASN][1000 genomes]
rs11766752	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769057	0.85[CEU][hapmap]
rs11769700	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769886	1.00[CEU][hapmap]
rs11771241	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs11771419	1.00[CEU][hapmap]
rs11772580	1.00[ASN][1000 genomes]
rs1962269	0.92[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.81[EUR][1000 genomes]
rs2406253	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406255	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490152	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs28578163	1.00[CEU][hapmap]
rs28629346	1.00[ASN][1000 genomes]
rs28660238	0.81[EUR][1000 genomes]
rs2897358	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989573	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111986	1.00[CEU][hapmap]
rs3900792	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs4074838	0.93[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385401	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463351	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4989959	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60257855	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60478351	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60644673	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844404	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66632384	0.81[EUR][1000 genomes]
rs66648318	1.00[ASN][1000 genomes]
rs66958101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67040465	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67163493	0.81[EUR][1000 genomes]
rs67196635	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67239991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67315960	0.81[EUR][1000 genomes]
rs67471932	0.81[EUR][1000 genomes]
rs67483801	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67885733	1.00[ASN][1000 genomes]
rs68116612	0.81[EUR][1000 genomes]
rs6945952	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs6948685	0.85[CEU][hapmap]
rs6948699	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953107	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955362	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955367	0.85[CEU][hapmap]
rs6957928	0.81[EUR][1000 genomes]
rs6962151	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965458	0.85[CEU][hapmap]
rs6970806	0.81[EUR][1000 genomes]
rs6972167	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974286	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975514	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975729	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978739	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979335	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979910	0.85[CEU][hapmap]
rs705866	0.85[CEU][hapmap]
rs73161759	0.81[EUR][1000 genomes]
rs73161762	0.81[EUR][1000 genomes]
rs73403312	0.81[EUR][1000 genomes]
rs73405353	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341507	0.85[CEU][hapmap]
rs7783159	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7783550	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7787620	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787825	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792525	0.85[CEU][hapmap]
rs7792959	0.85[CEU][hapmap]
rs7794485	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800667	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809801	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:45)

SNP	Gene	Cis/trans	Tissue	Source
rs11773661	PILRB	cis	lung	GTEx
rs11773661	PILRB	cis	Nerve Tibial	GTEx
rs11773661	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs11773661	PILRB	cis	Whole Blood	GTEx
rs11773661	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs11773661	PILRA	cis	Artery Tibial	GTEx
rs11773661	PVRIG2P	cis	Thyroid	GTEx
rs11773661	PILRB	cis	Thyroid	GTEx
rs11773661	PILRB	cis	Artery Tibial	GTEx
rs11773661	PILRA	cis	Stomach	GTEx
rs11773661	PILRA	cis	Nerve Tibial	GTEx
rs11773661	PILRB	cis	Artery Aorta	GTEx
rs11773661	PILRB	cis	Heart Left Ventricle	GTEx
rs11773661	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs11773661	PILRA	cis	Thyroid	GTEx
rs11773661	STAG3L5P	cis	lung	GTEx
rs11773661	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs11773661	STAG3L5P	cis	Artery Aorta	GTEx
rs11773661	PMS2P1	cis	Thyroid	GTEx
rs11773661	PVRIG2P	cis	lung	GTEx
rs11773661	PILRA	cis	Muscle Skeletal	GTEx
rs11773661	PILRB	cis	Esophagus Mucosa	GTEx
rs11773661	PVRIG2P	cis	Artery Tibial	GTEx
rs11773661	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs11773661	STAG3L5P	cis	Nerve Tibial	GTEx
rs11773661	STAG3L5P	cis	Thyroid	GTEx
rs11773661	PILRB	cis	Esophagus Muscularis	GTEx
rs11773661	PILRA	cis	Heart Left Ventricle	GTEx
rs11773661	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs11773661	PILRA	cis	Esophagus Mucosa	GTEx
rs11773661	PILRB	cis	multi-tissue	Pritchard
rs11773661	PILRB	cis	Muscle Skeletal	GTEx
rs11773661	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs11773661	PILRA	cis	Artery Aorta	GTEx
rs11773661	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs11773661	PVRIG2P	cis	Nerve Tibial	GTEx
rs11773661	PILRA	cis	Esophagus Muscularis	GTEx
rs11773661	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs11773661	STAG3	Cis_1M	lymphoblastoid	RTeQTL
rs11773661	STAG3L5P	cis	Artery Tibial	GTEx
rs11773661	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs11773661	PILRB	cis	Adipose Subcutaneous	GTEx
rs11773661	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs11773661	PILRA	cis	Adipose Subcutaneous	GTEx
rs11773661	STAG3L5P	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100063800-100073400	Weak transcription	NH-A	brain
2	chr7:100064000-100073200	Strong transcription	Thymus	Thymus
3	chr7:100064000-100073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:100065000-100074800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100065800-100075200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:100067400-100073200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:100067400-100073600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:100067400-100074400	Weak transcription	Psoas Muscle	Psoas
9	chr7:100067400-100074800	Weak transcription	Aorta	Aorta
10	chr7:100067600-100073600	Weak transcription	HepG2	liver
11	chr7:100067800-100073200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:100068000-100073200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:100068600-100073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:100068600-100073600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:100068800-100073600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:100069600-100073200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:100069600-100073200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:100069600-100073400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:100069600-100073400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:100069600-100073400	Enhancers	Fetal Heart	heart
21	chr7:100069600-100073400	Genic enhancers	Placenta	Placenta
22	chr7:100069800-100073400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr7:100069800-100073400	Genic enhancers	Fetal Muscle Leg	muscle
24	chr7:100070000-100075400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:100070200-100074000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:100070200-100074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:100070400-100073200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:100070400-100073200	Genic enhancers	Fetal Thymus	thymus
29	chr7:100070400-100073200	Strong transcription	Pancreas	Pancrea
30	chr7:100070400-100073400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:100070400-100073400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:100070400-100074000	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:100070400-100074000	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr7:100070400-100074000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100070400-100074000	Genic enhancers	Fetal Stomach	stomach
36	chr7:100070400-100074600	Genic enhancers	Spleen	Spleen
37	chr7:100070600-100073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:100070600-100073200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:100070600-100073200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:100070600-100073200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:100070600-100073400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:100070600-100073400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:100070600-100073600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:100070800-100073400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:100071000-100073200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:100071000-100073200	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr7:100071000-100073200	Strong transcription	Lung	lung
48	chr7:100071000-100073200	Genic enhancers	K562	blood
49	chr7:100071000-100073400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:100071000-100073400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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