Variant report

Variant	rs6946931
Chromosome Location	chr7:106788621-106788622
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106785402..106788167-chr7:106788520..106790659,2	K562	blood:
2	chr7:106785985..106788632-chr7:106807421..106810040,3	K562	blood:
3	chr7:106650757..106652736-chr7:106788247..106790695,3	K562	blood:
4	chr7:106685221..106688860-chr7:106786297..106789878,4	K562	blood:
5	chr7:106684670..106686724-chr7:106787966..106789822,2	MCF-7	breast:
6	chr7:106685233..106687642-chr7:106786297..106788782,2	K562	blood:
7	chr7:106689062..106690686-chr7:106788089..106791077,2	K562	blood:
8	chr7:106787797..106788658-chr7:106807825..106808493,2	MCF-7	breast:
9	chr7:106785772..106788697-chr7:106791053..106792877,2	K562	blood:
10	chr7:106771612..106774194-chr7:106787555..106789941,2	K562	blood:
11	chr7:106751220..106753946-chr7:106786479..106788942,2	K562	blood:
12	chr7:106587498..106588409-chr7:106787891..106788662,5	MCF-7	breast:
13	chr7:106787472..106790452-chr7:106792123..106795407,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243193	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000005249	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1002935	0.84[CEU][hapmap];0.91[AMR][1000 genomes]
rs1018946	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes]
rs1018947	0.84[CEU][hapmap];0.91[AMR][1000 genomes]
rs10248105	1.00[JPT][hapmap]
rs10253172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261881	0.81[ASN][1000 genomes]
rs10272371	1.00[CHD][hapmap]
rs10487271	0.84[CEU][hapmap]
rs10953529	0.85[AMR][1000 genomes]
rs10953530	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes]
rs10953531	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes]
rs10953533	0.80[AMR][1000 genomes]
rs11509187	0.81[ASN][1000 genomes]
rs11766060	1.00[LWK][hapmap]
rs11767623	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055946	0.81[ASN][1000 genomes]
rs12532447	0.89[CEU][hapmap]
rs12532849	0.84[CEU][hapmap]
rs12532953	0.91[AMR][1000 genomes]
rs12533767	0.91[AMR][1000 genomes]
rs12535258	0.84[CEU][hapmap]
rs12536574	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12537374	0.82[AMR][1000 genomes]
rs12537730	0.91[AMR][1000 genomes]
rs12540475	0.82[AMR][1000 genomes]
rs12705405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705406	0.89[AFR][1000 genomes]
rs17153823	1.00[CHD][hapmap]
rs17153861	0.81[ASN][1000 genomes]
rs17340577	1.00[ASW][hapmap]
rs17341680	0.81[ASN][1000 genomes]
rs17349904	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes]
rs17424561	1.00[ASW][hapmap]
rs17425839	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs17427123	0.91[AMR][1000 genomes]
rs17427158	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17427849	0.91[AMR][1000 genomes]
rs17428071	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs17428126	0.82[AMR][1000 genomes]
rs1981696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023892	0.91[AMR][1000 genomes]
rs2107318	0.91[AMR][1000 genomes]
rs2107319	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes]
rs2191917	0.81[ASN][1000 genomes]
rs2249043	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs2250121	1.00[CHD][hapmap]
rs257371	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257372	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257373	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257375	0.93[CEU][hapmap];0.89[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257379	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257381	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257382	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610544	0.81[ASN][1000 genomes]
rs2894459	0.84[CEU][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap]
rs3729876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752645	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs3779500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801963	0.83[CEU][hapmap]
rs3801965	0.84[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4727670	0.81[AMR][1000 genomes]
rs4727671	0.82[AMR][1000 genomes]
rs4730222	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4730223	0.84[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4730224	0.91[AMR][1000 genomes]
rs4730226	0.82[AMR][1000 genomes]
rs61014091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61673847	0.82[AMR][1000 genomes]
rs6466160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946036	0.96[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes]
rs6947675	0.82[CEU][hapmap];0.91[AMR][1000 genomes]
rs6947857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949961	0.84[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes]
rs6951639	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6960148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960708	1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs6967745	0.84[CEU][hapmap];0.91[AMR][1000 genomes]
rs6971393	0.81[ASN][1000 genomes]
rs6971675	0.84[CEU][hapmap];0.91[AMR][1000 genomes]
rs6971774	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[GIH][hapmap];0.89[AMR][1000 genomes]
rs6977868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978486	0.81[ASN][1000 genomes]
rs7777976	0.82[AMR][1000 genomes]
rs7781947	0.84[CEU][hapmap]
rs7786692	1.00[CHD][hapmap]
rs7789678	0.84[AMR][1000 genomes]
rs7793594	0.82[AMR][1000 genomes]
rs7794598	0.84[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs7794915	0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs7794965	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes]
rs7798223	0.91[AMR][1000 genomes]
rs7981	0.81[CEU][hapmap];0.91[AMR][1000 genomes]
rs8180787	0.81[ASN][1000 genomes]
rs9641378	0.84[CEU][hapmap];0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6946931	GPR22	cis	multi-tissue	Pritchard
rs6946931	BCAP29	cis	parietal	SCAN
rs6946931	NRCAM	cis	parietal	SCAN
rs6946931	TAS2R30	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:106767400-106797600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:106779800-106790800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:106780000-106807800	Weak transcription	Fetal Heart	heart
7	chr7:106780200-106792000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:106780200-106792200	Weak transcription	Fetal Brain Female	brain
9	chr7:106782000-106795400	Weak transcription	Pancreas	Pancrea
10	chr7:106782600-106808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:106782800-106807800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:106783600-106807600	Weak transcription	Fetal Stomach	stomach
13	chr7:106784200-106802600	Strong transcription	K562	blood
14	chr7:106785400-106808000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:106785800-106790800	Weak transcription	Fetal Lung	lung
16	chr7:106785800-106807600	Weak transcription	Fetal Kidney	kidney
17	chr7:106787200-106788800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:106787400-106791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:106787400-106792000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:106787400-106805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:106787800-106788800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:106787800-106788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:106787800-106788800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:106787800-106788800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:106787800-106788800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:106787800-106788800	Enhancers	NHLF	lung
27	chr7:106788000-106788800	Enhancers	Placenta	Placenta
28	chr7:106788000-106789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:106788000-106789000	Enhancers	HUVEC	blood vessel
30	chr7:106788000-106805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:106788000-106808000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:106788200-106790000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:106788200-106790000	Enhancers	Hela-S3	cervix
34	chr7:106788200-106807600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:106788400-106788800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:106788400-106788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:106788400-106789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:106788400-106791800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:106788400-106792000	Weak transcription	HMEC	breast
40	chr7:106788400-106792000	Weak transcription	NHDF-Ad	bronchial
41	chr7:106788400-106794000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:106788400-106808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:106788600-106788800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:106788600-106788800	Enhancers	Brain Anterior Caudate	brain
45	chr7:106788600-106789800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:106788600-106792000	Weak transcription	NH-A	brain
47	chr7:106788600-106805800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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