Variant report

Variant	rs6967638
Chromosome Location	chr7:106929356-106929357
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106928239..106930553-chr7:106930960..106933126,2	MCF-7	breast:
2	chr7:106923986..106926392-chr7:106929216..106932117,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1002935	0.81[EUR][1000 genomes]
rs1018946	0.85[EUR][1000 genomes]
rs1018947	0.85[EUR][1000 genomes]
rs10487271	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953530	0.81[EUR][1000 genomes]
rs10953531	0.81[EUR][1000 genomes]
rs10953533	0.82[EUR][1000 genomes]
rs10953534	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1121312	0.86[EUR][1000 genomes]
rs11764448	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11769527	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12532953	0.85[EUR][1000 genomes]
rs12533767	0.85[EUR][1000 genomes]
rs12537374	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12537730	0.83[EUR][1000 genomes]
rs12540475	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17349904	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17350182	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17427849	0.85[EUR][1000 genomes]
rs17428071	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17428126	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2023892	0.85[EUR][1000 genomes]
rs2107318	0.85[EUR][1000 genomes]
rs2107319	0.85[EUR][1000 genomes]
rs3779498	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3801963	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4727670	0.84[EUR][1000 genomes]
rs4727671	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730226	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4730227	0.86[EUR][1000 genomes]
rs4730228	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730229	0.87[EUR][1000 genomes]
rs61406169	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61673847	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6466162	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6946036	0.85[EUR][1000 genomes]
rs6949961	0.85[EUR][1000 genomes]
rs6960813	0.86[EUR][1000 genomes]
rs6964798	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6964966	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6965001	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6967639	0.86[EUR][1000 genomes]
rs6967745	0.85[EUR][1000 genomes]
rs6971675	0.81[EUR][1000 genomes]
rs6971774	0.81[EUR][1000 genomes]
rs7777976	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7779062	0.86[EUR][1000 genomes]
rs7781947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7789678	0.81[EUR][1000 genomes]
rs7793594	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7794965	0.81[EUR][1000 genomes]
rs7798223	0.81[EUR][1000 genomes]
rs7800443	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7803290	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7981	0.83[EUR][1000 genomes]
rs9641378	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2756226	chr7:106850755-106944563	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1016691	chr7:106880953-106960515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1015615	chr7:106888529-106962332	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1033064	chr7:106903099-106949640	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3403054	chr7:106928966-106930114	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6967638	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
2	chr7:106874000-106945600	Weak transcription	Pancreas	Pancrea
3	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:106886800-106946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:106887000-106935800	Weak transcription	Small Intestine	intestine
6	chr7:106888600-106930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:106888600-106931600	Weak transcription	Dnd41	blood
8	chr7:106888800-106930800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:106888800-106932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:106888800-106933400	Weak transcription	Fetal Stomach	stomach
11	chr7:106888800-106946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:106888800-106946200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:106889000-106933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:106889000-106934400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:106890800-106945600	Weak transcription	Aorta	Aorta
17	chr7:106891000-106931000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:106899200-106933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:106904800-106959800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:106907000-106933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:106908200-106933600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:106908600-106933000	Weak transcription	Liver	Liver
23	chr7:106909000-106932200	Weak transcription	NHEK	skin
24	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:106910200-106946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:106911000-106930400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:106911000-106932000	Weak transcription	K562	blood
28	chr7:106911000-106933600	Weak transcription	Lung	lung
29	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:106911800-106946000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:106912400-106934200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:106915200-106953400	Weak transcription	Left Ventricle	heart
33	chr7:106915800-106931000	Weak transcription	Primary T cells from cord blood	blood
34	chr7:106918000-106936000	Weak transcription	HSMMtube	muscle
35	chr7:106918000-106939000	Weak transcription	GM12878-XiMat	blood
36	chr7:106918600-106963800	Weak transcription	HSMM	muscle
37	chr7:106921200-106936400	Weak transcription	HUVEC	blood vessel
38	chr7:106921400-106946000	Weak transcription	Fetal Thymus	thymus
39	chr7:106922200-106930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:106922200-106934200	Weak transcription	Brain Angular Gyrus	brain
41	chr7:106923000-106933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:106923000-106933800	Weak transcription	Spleen	Spleen
43	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:106923200-106935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:106923400-106930600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:106923600-106930600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:106923600-106930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:106923600-106933400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:106923800-106929600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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