Variant report

Variant	rs11988437
Chromosome Location	chr8:126583713-126583714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126579931..126585815-chr8:126586527..126590543,9	MCF-7	breast:
2	chr8:126583666..126586593-chr8:126600715..126602513,2	MCF-7	breast:
3	chr8:126570042..126574536-chr8:126578331..126584724,7	MCF-7	breast:
4	chr8:126441746..126446233-chr8:126582172..126585643,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10110589	0.90[CEU][hapmap]
rs1015109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777118	0.81[CEU][hapmap]
rs11991475	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11996453	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11998450	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs13255329	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs13265324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269369	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs13277305	0.86[EUR][1000 genomes]
rs1454617	0.81[CEU][hapmap]
rs1454618	0.81[CEU][hapmap]
rs2124038	0.86[CEU][hapmap]
rs7016867	0.95[EUR][1000 genomes]
rs7821956	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]

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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126569800-126588200	Weak transcription	Spleen	Spleen
2	chr8:126578800-126583800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:126578800-126586600	Weak transcription	Liver	Liver
4	chr8:126581000-126583800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:126581600-126586000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:126581600-126586800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:126581600-126590800	Weak transcription	Lung	lung
8	chr8:126582000-126588200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126582400-126586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:126582600-126586200	Weak transcription	Placenta	Placenta
11	chr8:126582800-126583800	Weak transcription	Ovary	ovary
12	chr8:126582800-126585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:126582800-126586800	Weak transcription	Fetal Kidney	kidney
14	chr8:126582800-126590800	Weak transcription	Esophagus	oesophagus
15	chr8:126582800-126591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:126583000-126583800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:126583000-126586000	Weak transcription	HMEC	breast
18	chr8:126583000-126586000	Weak transcription	NHEK	skin
19	chr8:126583000-126587600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:126583000-126587600	Weak transcription	Fetal Lung	lung
21	chr8:126583000-126587800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:126583000-126587800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:126583000-126587800	Weak transcription	Osteobl	bone
24	chr8:126583000-126588000	Weak transcription	Adipose Nuclei	Adipose
25	chr8:126583000-126588200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:126583000-126588200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:126583000-126589200	Weak transcription	Colonic Mucosa	Colon
28	chr8:126583000-126591200	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:126583000-126591200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:126583200-126587600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:126583600-126584400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:126583600-126584600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:126583600-126585200	Enhancers	Fetal Intestine Large	intestine

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