Variant report

Variant	rs61575270
Chromosome Location	chr7:97894157-97894158
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97890127..97891931-chr7:97894031..97896338,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10249366	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953247	0.88[EUR][1000 genomes]
rs11761574	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11771397	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11771953	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11772438	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773779	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11984183	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12533016	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539676	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12669622	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12704981	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270600	0.88[EUR][1000 genomes]
rs2270604	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2394827	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28566958	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28662014	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727388	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4727390	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729421	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56098787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62479836	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62479838	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6951479	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs747631	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs747632	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787309	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954050	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61575270	DKFZP434B0335	Cis_1M	lymphoblastoid	RTeQTL
rs61575270	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97882400-97894400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:97882400-97895200	Weak transcription	NHDF-Ad	bronchial
3	chr7:97882400-97895400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:97882800-97895000	Weak transcription	HUVEC	blood vessel
5	chr7:97882800-97895200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:97882800-97895200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:97882800-97895200	Weak transcription	NH-A	brain
8	chr7:97882800-97895200	Weak transcription	NHLF	lung
9	chr7:97883000-97894800	Weak transcription	Fetal Brain Male	brain
10	chr7:97884600-97894400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:97886600-97895200	Weak transcription	HepG2	liver
12	chr7:97886600-97896600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:97886600-97909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:97886800-97909200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:97886800-97910000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:97887200-97910000	Weak transcription	Right Ventricle	heart
17	chr7:97887400-97894800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:97887400-97895200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:97887400-97896400	Weak transcription	Ovary	ovary
20	chr7:97887400-97897200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:97887400-97897200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:97887400-97900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:97887400-97908000	Weak transcription	Gastric	stomach
24	chr7:97887400-97910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:97887600-97905800	Weak transcription	Left Ventricle	heart
26	chr7:97887600-97909600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:97888000-97896800	Weak transcription	Fetal Brain Female	brain
28	chr7:97888000-97908000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:97890200-97894600	Strong transcription	Lung	lung
30	chr7:97890400-97895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:97890600-97899800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:97890800-97895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:97891000-97894800	Weak transcription	Hela-S3	cervix
34	chr7:97891000-97895000	Weak transcription	Osteobl	bone
35	chr7:97891000-97896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:97891000-97898400	Weak transcription	Fetal Intestine Large	intestine
37	chr7:97891000-97899600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:97891000-97905200	Weak transcription	Liver	Liver
39	chr7:97891000-97909800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:97891000-97909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:97891200-97894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:97891200-97895200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:97891200-97895200	Weak transcription	Adipose Nuclei	Adipose
44	chr7:97891200-97895200	Weak transcription	A549	lung
45	chr7:97891200-97895200	Weak transcription	HSMM	muscle
46	chr7:97891200-97895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:97891200-97896400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:97891200-97898000	Weak transcription	Esophagus	oesophagus
49	chr7:97891200-97903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:97891200-97909600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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