Variant report

Variant	rs7341519
Chromosome Location	chr7:97767083-97767084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97765887..97768071-chr7:97777443..97779384,2	MCF-7	breast:
2	chr7:97762740..97765611-chr7:97766215..97769576,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10215815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235547	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10238491	0.82[CEU][hapmap];0.87[GIH][hapmap]
rs10248229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254691	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10258913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259449	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532406	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539490	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17169406	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169462	0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2272184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291748	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735253	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3735256	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72494441	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404144	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73404162	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73406026	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73406034	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9656054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7341519	DKFZP434B0335	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97741200-97767600	Weak transcription	Fetal Brain Male	brain
2	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
4	chr7:97751400-97767600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:97755800-97767400	Weak transcription	Fetal Brain Female	brain
7	chr7:97760600-97772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:97761000-97767400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:97761400-97767200	Weak transcription	Fetal Lung	lung
10	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:97761600-97767200	Enhancers	Liver	Liver
12	chr7:97761600-97767400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
14	chr7:97763200-97770800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:97763200-97771200	Weak transcription	Colonic Mucosa	Colon
16	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:97763400-97767200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:97763400-97767200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:97763400-97767200	Weak transcription	Placenta	Placenta
20	chr7:97763400-97772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:97763400-97821000	Weak transcription	NHLF	lung
24	chr7:97763600-97767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:97763600-97767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:97763600-97767800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:97763600-97770800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:97763600-97771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:97763600-97772000	Weak transcription	NHDF-Ad	bronchial
30	chr7:97763600-97788400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:97763600-97793000	Weak transcription	NH-A	brain
32	chr7:97763600-97814200	Weak transcription	Osteobl	bone
33	chr7:97763600-97815800	Weak transcription	HSMM	muscle
34	chr7:97763800-97768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:97763800-97770800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:97763800-97784000	Weak transcription	HUVEC	blood vessel
37	chr7:97764000-97767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:97764000-97768000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr7:97764000-97770800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
41	chr7:97764200-97767200	Weak transcription	Spleen	Spleen
42	chr7:97764400-97767200	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:97764400-97767200	Weak transcription	K562	blood
44	chr7:97764400-97767800	Weak transcription	Brain Anterior Caudate	brain
45	chr7:97764400-97770200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:97764400-97770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:97764400-97780800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:97764800-97767200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:97765200-97768400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:97765400-97771800	Weak transcription	Primary hematopoietic stem cells	blood

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