Variant report

Variant	rs11996829
Chromosome Location	chr8:59331282-59331283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59330587..59332964-chr8:59341646..59343603,2	K562	blood:
2	chr8:59326851..59328601-chr8:59330352..59332421,2	MCF-7	breast:
3	chr8:59323416..59326297-chr8:59327025..59332667,5	K562	blood:
4	chr8:59330587..59332964-chr8:59341422..59343603,3	K562	blood:
5	chr8:59321855..59325054-chr8:59330526..59332610,3	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];0.81[AMR][1000 genomes]
rs10957054	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783515	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13253288	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1529367	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529368	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580180	0.84[EUR][1000 genomes]
rs1993453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081687	0.84[EUR][1000 genomes]
rs2326077	0.85[EUR][1000 genomes]
rs4738679	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4738680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471717	0.86[EUR][1000 genomes]
rs6982486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985620	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005978	0.85[EUR][1000 genomes]
rs7007181	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]
rs7826120	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8192870	0.83[CEU][hapmap]
rs983812	0.85[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324400-59335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:59324400-59335600	Weak transcription	Spleen	Spleen
3	chr8:59324400-59337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:59324400-59341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:59324600-59332000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:59324600-59335000	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:59324600-59335400	Weak transcription	Left Ventricle	heart
8	chr8:59324600-59335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:59324600-59337400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:59324600-59339200	Weak transcription	Esophagus	oesophagus
11	chr8:59324800-59333600	Weak transcription	NHDF-Ad	bronchial
12	chr8:59324800-59337400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:59324800-59337400	Weak transcription	Fetal Stomach	stomach
14	chr8:59324800-59352000	Weak transcription	HSMMtube	muscle
15	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:59325000-59331800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:59325000-59332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:59325000-59335600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:59325000-59335600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:59325000-59336400	Weak transcription	Osteobl	bone
21	chr8:59325000-59348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:59325000-59352600	Weak transcription	Fetal Kidney	kidney
23	chr8:59325000-59357600	Weak transcription	NHLF	lung
24	chr8:59325000-59360000	Weak transcription	Right Ventricle	heart
25	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
26	chr8:59325200-59333400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:59325200-59333600	Weak transcription	HMEC	breast
28	chr8:59325200-59333800	Weak transcription	NH-A	brain
29	chr8:59325200-59334200	Weak transcription	A549	lung
30	chr8:59325200-59334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:59325200-59334800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:59325200-59335000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:59325200-59335200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:59325200-59335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:59325200-59335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:59325200-59338200	Weak transcription	Ovary	ovary
37	chr8:59325200-59338200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:59325200-59339200	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:59325200-59351200	Weak transcription	K562	blood
40	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:59325400-59334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:59325400-59334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:59325400-59335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:59325400-59335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:59325400-59337200	Weak transcription	Aorta	Aorta
46	chr8:59325400-59337400	Weak transcription	Brain Anterior Caudate	brain
47	chr8:59325400-59337600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:59325400-59349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:59325400-59351400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:59325600-59335200	Weak transcription	Primary hematopoietic stem cells	blood

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