Variant report

Variant	rs7007181
Chromosome Location	chr8:59339279-59339280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59322458..59324243-chr8:59339227..59342124,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215114	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1030431	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs10957054	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783515	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11996829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253288	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529367	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529368	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580180	0.85[EUR][1000 genomes]
rs1993453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081687	0.85[EUR][1000 genomes]
rs2326077	0.87[EUR][1000 genomes]
rs4738679	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738680	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471717	0.87[EUR][1000 genomes]
rs6982486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985620	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005978	0.87[EUR][1000 genomes]
rs7826120	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8192870	1.00[ASW][hapmap];0.83[CEU][hapmap];0.87[MEX][hapmap];0.80[YRI][hapmap]
rs983812	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757275	chr8:59305290-59342331	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
2	esv2759619	chr8:59305290-59342331	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324400-59341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:59324800-59352000	Weak transcription	HSMMtube	muscle
3	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:59325000-59348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:59325000-59352600	Weak transcription	Fetal Kidney	kidney
6	chr8:59325000-59357600	Weak transcription	NHLF	lung
7	chr8:59325000-59360000	Weak transcription	Right Ventricle	heart
8	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
9	chr8:59325200-59351200	Weak transcription	K562	blood
10	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:59325400-59349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:59325400-59351400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:59325600-59341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:59325600-59348600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:59325600-59348800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:59325800-59342200	Weak transcription	Fetal Heart	heart
17	chr8:59325800-59343400	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:59325800-59345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:59325800-59347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:59325800-59353200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:59325800-59363200	Weak transcription	Hela-S3	cervix
22	chr8:59326600-59348800	Weak transcription	Small Intestine	intestine
23	chr8:59326600-59353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:59326600-59361400	Weak transcription	Fetal Brain Male	brain
25	chr8:59326600-59366200	Weak transcription	Gastric	stomach
26	chr8:59327000-59352600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:59332200-59349000	Weak transcription	HSMM	muscle
28	chr8:59332400-59347400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:59332600-59343800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:59332600-59347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:59332600-59352600	Weak transcription	Brain Substantia Nigra	brain
32	chr8:59332600-59354200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:59332600-59364800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:59334400-59364200	Weak transcription	HMEC	breast
35	chr8:59334600-59340000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:59334600-59354200	Weak transcription	NHEK	skin
37	chr8:59335000-59341200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr8:59335000-59356400	Weak transcription	Stomach Mucosa	stomach
39	chr8:59335200-59352800	Weak transcription	Colonic Mucosa	Colon
40	chr8:59335400-59340000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:59335800-59341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:59335800-59347000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:59335800-59347200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:59335800-59349000	Weak transcription	A549	lung
45	chr8:59335800-59354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:59336000-59340400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:59336000-59341800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:59336000-59341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:59336000-59342000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:59336000-59346000	Weak transcription	HepG2	liver

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