Variant report

Variant	rs322832
Chromosome Location	chr7:127715902-127715903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127710185..127711804-chr7:127715532..127717815,2	MCF-7	breast:
2	chr7:127707718..127710991-chr7:127715839..127718158,3	K562	blood:
3	chr7:127705316..127708471-chr7:127714024..127716171,3	MCF-7	breast:
4	chr7:127710993..127713528-chr7:127713751..127716663,2	K562	blood:
5	chr7:127712887..127715958-chr7:127718524..127721736,3	K562	blood:
6	chr7:127711312..127714217-chr7:127714878..127716428,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs124756	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1345509	0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs178734	0.97[EUR][1000 genomes]
rs2241291	0.80[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap]
rs225241	0.97[EUR][1000 genomes]
rs322781	0.86[ASN][1000 genomes]
rs322813	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs322816	0.95[ASN][1000 genomes]
rs322817	0.93[ASN][1000 genomes]
rs322819	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs322820	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs322821	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs322822	0.95[ASN][1000 genomes]
rs322823	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs322824	0.96[ASN][1000 genomes]
rs322825	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs322826	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322827	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs322828	0.92[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs322829	0.99[ASN][1000 genomes]
rs322830	0.99[ASN][1000 genomes]
rs322831	0.94[EUR][1000 genomes]
rs322833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322834	0.98[EUR][1000 genomes]
rs322835	0.94[EUR][1000 genomes]
rs322836	0.94[EUR][1000 genomes]
rs322837	0.99[ASN][1000 genomes]
rs322838	0.94[EUR][1000 genomes]
rs322840	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3757753	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757754	0.98[ASN][1000 genomes]
rs3757755	0.96[EUR][1000 genomes]
rs3757759	0.92[ASN][1000 genomes]
rs3757760	0.80[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap]
rs3757763	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs3779522	0.98[ASN][1000 genomes]
rs3779523	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3779526	0.83[JPT][hapmap]
rs3808055	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3808056	0.80[CHB][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap]
rs3808077	0.81[CHB][hapmap]
rs3808088	0.83[JPT][hapmap]
rs3823995	0.83[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs6969233	0.92[ASN][1000 genomes]
rs6973092	0.83[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs322832	TMEM209	cis	cerebellum	SCAN
rs322832	GCC1	cis	lymphoblastoid	seeQTL
rs322832	ATP6V1F	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
7	chr7:127693200-127718400	Weak transcription	HMEC	breast
8	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
9	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
10	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:127701600-127724600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:127703600-127716600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:127703600-127716800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:127704400-127716800	Weak transcription	Ovary	ovary
18	chr7:127706600-127716000	Weak transcription	Fetal Lung	lung
19	chr7:127707600-127716000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:127707600-127716600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:127708000-127716600	Weak transcription	HSMM	muscle
23	chr7:127708200-127716800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:127709800-127718400	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:127709800-127724600	Weak transcription	NHDF-Ad	bronchial
26	chr7:127710400-127720200	Strong transcription	GM12878-XiMat	blood
27	chr7:127710600-127717200	Weak transcription	HSMMtube	muscle
28	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:127711400-127724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:127711600-127716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:127711600-127727400	Strong transcription	HepG2	liver
32	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:127711800-127716800	Strong transcription	Pancreas	Pancrea
35	chr7:127711800-127721800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:127711800-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:127712000-127728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:127712200-127738200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:127712600-127717400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:127712800-127716000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:127712800-127716000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:127713000-127718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:127713000-127718400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:127713000-127735000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:127713000-127737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:127713200-127729600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:127713200-127736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:127713400-127717800	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr7:127713400-127736400	Strong transcription	NHEK	skin
50	chr7:127713800-127716000	Strong transcription	Liver	Liver

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