Variant report

Variant	rs7015929
Chromosome Location	chr8:126323547-126323548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126322882..126325288-chr8:126341226..126344036,2	MCF-7	breast:
2	chr8:126322565..126325543-chr8:126398051..126400754,2	K562	blood:
3	chr8:126322775..126325077-chr8:126329486..126331781,2	K562	blood:
4	chr8:126318394..126322454-chr8:126322882..126325184,6	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12541675	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545844	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549614	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893118	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16900559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900568	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28895930	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309384	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871579	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871581	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871583	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55808842	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913855	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994510	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720592	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720595	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72720596	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720597	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720601	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722603	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722605	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722614	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722617	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
3	chr8:126315400-126325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:126316000-126325000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:126318600-126354600	Weak transcription	Ovary	ovary
6	chr8:126319400-126323800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:126319400-126325200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:126319600-126323600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:126319800-126324000	Enhancers	NHLF	lung
10	chr8:126319800-126324600	Enhancers	K562	blood
11	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:126320400-126326600	Weak transcription	Left Ventricle	heart
14	chr8:126320800-126323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:126321000-126329200	Weak transcription	Gastric	stomach
16	chr8:126321200-126324000	Enhancers	HSMM	muscle
17	chr8:126321200-126325400	Weak transcription	Fetal Brain Male	brain
18	chr8:126321600-126323800	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:126321600-126324000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:126321600-126324000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:126321600-126324000	Enhancers	Adipose Nuclei	Adipose
22	chr8:126321600-126324200	Enhancers	HepG2	liver
23	chr8:126321600-126324200	Enhancers	NH-A	brain
24	chr8:126321800-126323800	Enhancers	Liver	Liver
25	chr8:126321800-126324000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:126321800-126324000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:126321800-126325200	Enhancers	HUVEC	blood vessel
28	chr8:126322000-126323600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:126322000-126323600	Enhancers	HSMMtube	muscle
30	chr8:126322000-126324000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:126322000-126328200	Weak transcription	Colonic Mucosa	Colon
32	chr8:126322000-126332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
34	chr8:126322200-126325400	Weak transcription	Fetal Heart	heart
35	chr8:126322200-126328200	Weak transcription	Small Intestine	intestine
36	chr8:126322400-126324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:126322400-126324200	Enhancers	Hela-S3	cervix
38	chr8:126322600-126323600	Enhancers	A549	lung
39	chr8:126322600-126323800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:126322600-126324200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:126322600-126324600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:126322600-126328000	Weak transcription	Placenta	Placenta
43	chr8:126322800-126323800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:126322800-126324000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:126322800-126324000	Enhancers	NHDF-Ad	bronchial
46	chr8:126322800-126324200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:126322800-126325000	Enhancers	Fetal Intestine Large	intestine
48	chr8:126323000-126324800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:126323200-126323600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:126323200-126323600	Flanking Active TSS	Osteobl	bone

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