Variant report

Variant	rs7806537
Chromosome Location	chr7:100064719-100064720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr7:100064549-100064769	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:100064529-100065088	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100064518-100065764	SK-N-MC	brain:	n/a	n/a
4	ZBTB7A	chr7:100064347-100064931	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr7:100064296-100066220	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:100064479-100066038	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100064671-100064721	K562	blood:	n/a
2	chr7:100064671-100064721	HRPEpiC	eye:	n/a
3	chr7:100064671-100064721	AoSMC	blood vessel:	n/a
4	chr7:100064671-100064721	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:100064671-100064721	BJ	skin:	n/a
6	chr7:100064671-100064721	HUVEC	blood vessel:	n/a
7	chr7:100064671-100064721	GM19239	blood:	n/a
8	chr7:100064671-100064721	HepG2	liver:	n/a
9	chr7:100064671-100064721	SK-N-MC	brain:	n/a
10	chr7:100064671-100064721	AG09319	gingival:	n/a
11	chr7:100064671-100064721	BE2_C	brain:	n/a
12	chr7:100064671-100064721	HCM	heart:	n/a
13	chr7:100064671-100064721	HAEpiC	amniotic membrane:	n/a
14	chr7:100064671-100064721	NB4	blood:	n/a
15	chr7:100064671-100064721	Jurkat	blood:	n/a
16	chr7:100064671-100064721	NT2-D1	testis:	n/a
17	chr7:100064671-100064721	ECC-1	luminal epithelium:	n/a
18	chr7:100064671-100064721	SK-N-SH	brain:	n/a
19	chr7:100064671-100064721	HEEpiC	esophagus:	n/a
20	chr7:100064671-100064721	Hepatocyte	liver:	n/a
21	chr7:100064671-100064721	T-47D	breast:	n/a
22	chr7:100064671-100064721	HL-60	blood:	n/a
23	chr7:100064671-100064721	SAEC	small airway:	n/a
24	chr7:100064671-100064721	GM06990	blood:	n/a
25	chr7:100064671-100064721	MCF-7	breast:	n/a
26	chr7:100064671-100064721	ovcar-3	ovarian:	n/a
27	chr7:100064671-100064721	MCF10A-Er-Src	breast:	n/a
28	chr7:100064671-100064721	ProgFib	skin:	n/a
29	chr7:100064671-100064721	PANC-1	pancreas:	n/a
30	chr7:100064671-100064721	SK-N-SH_RA	brain:	n/a
31	chr7:100064671-100064721	HCPEpiC	choroid plexus:	n/a
32	chr7:100064671-100064721	LNCaP	prostate:	n/a
33	chr7:100064671-100064721	HCT-116	colon:	n/a
34	chr7:100064671-100064721	GM12892	blood:	n/a
35	chr7:100064671-100064721	PFSK-1	brain:	n/a
36	chr7:100064671-100064721	AG04450	lung:	fetal
37	chr7:100064671-100064721	CMK	blood:	n/a
38	chr7:100064671-100064721	RPTEC	kidney:	n/a
39	chr7:100064671-100064721	Caco-2	colon:	n/a
40	chr7:100064671-100064721	GM12878	blood:	n/a
41	chr7:100064671-100064721	H1-hESC	embryonic stem cell:	embryo
42	chr7:100064671-100064721	NHDF-neo	bronchial:	n/a
43	chr7:100064671-100064721	SKMC	muscle:	n/a
44	chr7:100064671-100064721	GM12891	blood:	n/a
45	chr7:100064671-100064721	IMR90	lung:	fetal
46	chr7:100064671-100064721	Hela-S3	cervix:	n/a
47	chr7:100064671-100064721	NH-A	brain:	n/a
48	chr7:100064671-100064721	NHBE	bronchial:	n/a
49	chr7:100064671-100064721	HEK293	kidney:	embryo
50	chr7:100064671-100064721	AG04449	skin:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100024644..100031194-chr7:100062394..100068680,9	K562	blood:
2	chr7:100063244..100066111-chr7:100151596..100153457,2	K562	blood:
3	chr7:100033593..100036077-chr7:100064067..100067059,3	K562	blood:
4	chr7:100063964..100066067-chr7:100271416..100274399,2	K562	blood:

No data

Variant related genes	Relation type
C7orf61	TF binding region
C7orf61	CpG island
ENSG00000078487	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000240211	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17317214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2075668	0.86[JPT][hapmap]
rs56121056	0.85[ASN][1000 genomes]
rs73161774	0.85[ASN][1000 genomes]
rs7808970	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv518432	chr7:100056166-100064719	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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:28)

SNP	Gene	Cis/trans	Tissue	Source
rs7806537	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs7806537	PILRB	cis	parietal	SCAN
rs7806537	PILRA,PILRB	cis	frontal cortex	BrainEAC
rs7806537	PILRB	cis	brain	BrainEAC
rs7806537	STAG3L5P	cis	Artery Aorta	GTEx
rs7806537	PILRA	cis	Nerve Tibial	GTEx
rs7806537	PILRA	cis	Adipose Subcutaneous	GTEx
rs7806537	PILRA,PILRB	cis	cerebellar cortex	BrainEAC
rs7806537	PILRB	cis	lung	GTEx
rs7806537	PILRA,PILRB	cis	putamen	BrainEAC
rs7806537	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs7806537	STAG3L5P	cis	Thyroid	GTEx
rs7806537	PILRA	cis	Muscle Skeletal	GTEx
rs7806537	TAF6	cis	hippocampus	BrainEAC
rs7806537	PILRB	cis	cerebellum	SCAN
rs7806537	PILRA,PILRB	cis	brain	BrainEAC
rs7806537	STAG3L5P	cis	lung	GTEx
rs7806537	PILRA	cis	Esophagus Muscularis	GTEx
rs7806537	PILRB	cis	Thyroid	GTEx
rs7806537	ORAI2	cis	parietal	SCAN
rs7806537	PVRIG2P	cis	Thyroid	GTEx
rs7806537	PILRB	cis	Adipose Subcutaneous	GTEx
rs7806537	PVRIG2P	cis	lung	GTEx
rs7806537	PILRA	cis	Esophagus Mucosa	GTEx
rs7806537	GAL3ST4	cis	cerebellum	SCAN
rs7806537	STAG3	cis	brain	BrainEAC
rs7806537	PILRA	cis	Thyroid	GTEx
rs7806537	PILRB	cis	cerebellar cortex	BrainEAC

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100048600-100064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:100048600-100064800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:100048600-100068200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:100048600-100070400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:100048600-100070400	Weak transcription	HSMMtube	muscle
6	chr7:100048800-100064800	Weak transcription	NHEK	skin
7	chr7:100052800-100066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:100053600-100064800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100053600-100067000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:100054000-100067400	Weak transcription	Hela-S3	cervix
11	chr7:100054200-100069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:100056000-100067000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:100057200-100065000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:100057200-100065000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:100058800-100067200	Weak transcription	Aorta	Aorta
16	chr7:100058800-100070400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:100060600-100065400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:100060800-100066200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:100060800-100066800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:100060800-100067000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:100060800-100067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:100061000-100067000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:100061200-100069800	Weak transcription	HMEC	breast
24	chr7:100061400-100067000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:100061400-100067800	Genic enhancers	Fetal Muscle Leg	muscle
26	chr7:100061400-100070200	Weak transcription	HSMM	muscle
27	chr7:100061600-100064800	Weak transcription	Primary T cells from cord blood	blood
28	chr7:100061600-100066800	Weak transcription	K562	blood
29	chr7:100061600-100068600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:100062000-100067000	Weak transcription	A549	lung
31	chr7:100062400-100064800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:100062600-100066200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:100062800-100067600	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr7:100062800-100068600	Enhancers	Fetal Heart	heart
35	chr7:100063000-100064800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:100063000-100067600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:100063200-100067600	Genic enhancers	Fetal Stomach	stomach
38	chr7:100063200-100069600	Weak transcription	Right Atrium	heart
39	chr7:100063400-100065400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100063400-100065600	Genic enhancers	Fetal Thymus	thymus
41	chr7:100063400-100067400	Genic enhancers	Placenta	Placenta
42	chr7:100063400-100070400	Weak transcription	HUVEC	blood vessel
43	chr7:100063600-100064800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:100063600-100064800	Active TSS	Brain Hippocampus Middle	brain
45	chr7:100063600-100065600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:100063600-100065800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:100063600-100065800	Enhancers	Fetal Brain Male	brain
48	chr7:100063600-100066000	Active TSS	Brain Angular Gyrus	brain
49	chr7:100063600-100066000	Active TSS	Brain Anterior Caudate	brain
50	chr7:100063600-100067000	Weak transcription	Colon Smooth Muscle	Colon

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