Variant report

Variant	rs11768933
Chromosome Location	chr7:99967737-99967738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99967688-99968229	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:99967465-99968308	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:99967723-99970407	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:99961803-99969906	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:99967735-99968324	U87	brain:	n/a	n/a
6	POLR2A	chr7:99967600-99968309	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr7:99963980-99970675	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:99967649-99968417	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:99959279-99970406	K562	blood:	n/a	n/a
10	POLR2A	chr7:99961321-99968296	K562	blood:	n/a	n/a
11	POLR2A	chr7:99967637-99968367	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr7:99963640-99968513	SK-N-SH	brain:	n/a	n/a
13	BCL3	chr7:99967723-99968283	A549	lung:	n/a	n/a
14	POLR2A	chr7:99967647-99968294	U87	brain:	n/a	n/a
15	POLR2A	chr7:99967616-99968793	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr7:99961913-99969801	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99966472..99969884-chr7:100031545..100035720,3	K562	blood:
2	chr7:99965641..99971124-chr7:100025245..100028820,5	MCF-7	breast:
3	chr7:99964978..99968212-chr7:99999516..100003937,4	K562	blood:
4	chr7:99750934..99753069-chr7:99966864..99969684,2	MCF-7	breast:
5	chr7:99953918..99957943-chr7:99965213..99968518,4	K562	blood:
6	chr7:99964487..99968212-chr7:99999516..100003937,5	K562	blood:
7	chr7:99966465..99969191-chr7:99975773..99977859,2	K562	blood:
8	chr7:99966413..99968600-chr7:100178875..100181053,2	K562	blood:
9	chr7:99966406..99967976-chr7:99972194..99973946,2	MCF-7	breast:

No data

Variant related genes	Relation type
PILRA	TF binding region
ENSG00000241357	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000240211	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 48 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1000215	0.84[ASN][1000 genomes]
rs10085549	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059129	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1063945	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761253	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761306	1.00[ASN][1000 genomes]
rs11761426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.84[ASN][1000 genomes]
rs11765869	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766917	0.83[ASN][1000 genomes]
rs11768967	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769886	0.84[ASN][1000 genomes]
rs11771241	0.84[ASN][1000 genomes]
rs11771419	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771799	1.00[ASN][1000 genomes]
rs11771936	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636980	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964242	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.84[ASN][1000 genomes]
rs2108269	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28401739	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28490152	0.84[ASN][1000 genomes]
rs28495773	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660238	0.84[ASN][1000 genomes]
rs28680963	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111986	0.84[ASN][1000 genomes]
rs35986051	1.00[ASN][1000 genomes]
rs3900792	0.84[ASN][1000 genomes]
rs3991498	0.84[EUR][1000 genomes]
rs3991564	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41280971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61735533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66632384	0.84[ASN][1000 genomes]
rs67163493	0.84[ASN][1000 genomes]
rs67315960	0.84[ASN][1000 genomes]
rs67471932	0.84[ASN][1000 genomes]
rs68116612	0.84[ASN][1000 genomes]
rs6945952	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6946768	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948685	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953749	0.84[ASN][1000 genomes]
rs6955367	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.84[ASN][1000 genomes]
rs6965207	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965458	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.84[ASN][1000 genomes]
rs6975563	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975660	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979910	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705866	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161745	0.85[ASN][1000 genomes]
rs73161759	0.84[ASN][1000 genomes]
rs73161762	0.84[ASN][1000 genomes]
rs73401443	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401451	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783159	0.84[ASN][1000 genomes]
rs7783550	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786844	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792525	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792959	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795656	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799894	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799901	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7799932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803454	0.84[ASN][1000 genomes]

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	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

mRNA abundance (count:48)

SNP	Gene	Cis/trans	Tissue	Source
rs11768933	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs11768933	PILRB	cis	lung	GTEx
rs11768933	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs11768933	PILRB	cis	Muscle Skeletal	GTEx
rs11768933	PILRA	cis	Nerve Tibial	GTEx
rs11768933	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs11768933	PILRA	cis	Heart Left Ventricle	GTEx
rs11768933	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs11768933	PVRIG2P	cis	Heart Left Ventricle	GTEx
rs11768933	PILRB	cis	Stomach	GTEx
rs11768933	PVRIG2P	cis	Thyroid	GTEx
rs11768933	PVRIG2P	cis	Nerve Tibial	GTEx
rs11768933	PILRB	cis	Adipose Subcutaneous	GTEx
rs11768933	PILRA	cis	Thyroid	GTEx
rs11768933	STAG3L5P	cis	Nerve Tibial	GTEx
rs11768933	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs11768933	PILRB	cis	Nerve Tibial	GTEx
rs11768933	STAG3L5P	cis	Muscle Skeletal	GTEx
rs11768933	PILRB	cis	Artery Aorta	GTEx
rs11768933	PVRIG2P	cis	Artery Tibial	GTEx
rs11768933	PILRA	cis	Stomach	GTEx
rs11768933	PVRIG2P	cis	Esophagus Muscularis	GTEx
rs11768933	PILRA	cis	Muscle Skeletal	GTEx
rs11768933	PILRA	cis	Esophagus Muscularis	GTEx
rs11768933	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs11768933	PMS2P1	cis	Esophagus Mucosa	GTEx
rs11768933	STAG3L5P	cis	Artery Tibial	GTEx
rs11768933	PILRB	cis	Thyroid	GTEx
rs11768933	PILRA	cis	Esophagus Mucosa	GTEx
rs11768933	STAG3L5P	cis	Artery Aorta	GTEx
rs11768933	STAG3L5P	cis	lung	GTEx
rs11768933	PVRIG2P	cis	lung	GTEx
rs11768933	STAG3L5P	cis	Thyroid	GTEx
rs11768933	PILRB	cis	Esophagus Mucosa	GTEx
rs11768933	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs11768933	PILRB	cis	Artery Tibial	GTEx
rs11768933	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs11768933	PILRB	cis	Heart Left Ventricle	GTEx
rs11768933	PILRB	cis	Whole Blood	GTEx
rs11768933	PILRA	cis	Adipose Subcutaneous	GTEx
rs11768933	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs11768933	STAG3L5P	cis	Stomach	GTEx
rs11768933	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs11768933	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs11768933	PILRA	cis	Artery Tibial	GTEx
rs11768933	PILRA	cis	Artery Aorta	GTEx
rs11768933	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs11768933	PILRB	cis	Esophagus Muscularis	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
3	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
4	chr7:99945400-99969400	Weak transcription	Fetal Heart	heart
5	chr7:99959600-99970200	Weak transcription	HSMM	muscle
6	chr7:99960200-99968400	Weak transcription	Gastric	stomach
7	chr7:99960200-99969000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
10	chr7:99960600-99967800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99960600-99970000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
15	chr7:99960800-99971800	Weak transcription	HSMMtube	muscle
16	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:99961200-99969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:99961200-99969800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:99961200-99970000	Weak transcription	NHEK	skin
20	chr7:99961400-99967800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:99961400-99967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:99961400-99969000	Weak transcription	Hela-S3	cervix
23	chr7:99961400-99969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:99961400-99970000	Weak transcription	HUVEC	blood vessel
25	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:99961600-99970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:99961600-99970400	Weak transcription	Fetal Lung	lung
28	chr7:99961600-99970600	Weak transcription	HepG2	liver
29	chr7:99962000-99967800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:99962000-99970200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:99962200-99967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:99962200-99970000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:99962200-99970800	Weak transcription	NH-A	brain
34	chr7:99962400-99967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:99962400-99970000	Weak transcription	Osteobl	bone
36	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:99962800-99972800	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:99963000-99971400	Enhancers	Primary B cells from cord blood	blood
39	chr7:99963600-99969600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:99964200-99970000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:99964400-99969400	Weak transcription	HMEC	breast
42	chr7:99964400-99970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:99964600-99970000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:99964800-99970000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:99964800-99970000	Weak transcription	Colonic Mucosa	Colon
46	chr7:99964800-99977600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:99965000-99969600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr7:99965000-99970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:99965200-99967800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:99965200-99968000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links