Variant report

Variant	rs16904256
Chromosome Location	chr8:131384143-131384144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131370668..131373008-chr8:131383412..131385396,2	K562	blood:
2	chr8:131383247..131386080-chr8:131661845..131664084,2	MCF-7	breast:
3	chr8:131381097..131383517-chr8:131384133..131386765,3	K562	blood:
4	chr8:131383872..131386552-chr8:131387073..131389271,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10090106	0.81[CEU][hapmap]
rs1340019	0.96[ASN][1000 genomes]
rs16893265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2670876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2670881	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670882	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2670886	1.00[JPT][hapmap]
rs2791339	1.00[JPT][hapmap]
rs2791346	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2791354	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994295	1.00[JPT][hapmap]
rs2994298	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3924350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498576	0.85[JPT][hapmap]
rs4733570	1.00[JPT][hapmap]
rs9694314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
5	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
7	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:131371800-131396400	Weak transcription	HepG2	liver
9	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
10	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
12	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
13	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
15	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
16	chr8:131378800-131387800	Weak transcription	HMEC	breast
17	chr8:131378800-131388000	Weak transcription	Hela-S3	cervix
18	chr8:131379000-131384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:131379000-131387800	Weak transcription	HSMM	muscle
20	chr8:131380400-131388200	Weak transcription	NH-A	brain
21	chr8:131380600-131388000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:131380800-131387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:131381200-131386600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:131381600-131384400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:131382000-131384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:131382000-131388000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:131382400-131384200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131382400-131384400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:131382600-131398800	Weak transcription	Lung	lung
32	chr8:131382800-131386600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131382800-131386800	Weak transcription	NHLF	lung
34	chr8:131382800-131390200	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:131383200-131388200	Weak transcription	NHDF-Ad	bronchial
36	chr8:131383200-131388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131383200-131390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131383800-131384200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131383800-131384200	Strong transcription	A549	lung
43	chr8:131383800-131384600	Enhancers	Ovary	ovary
44	chr8:131383800-131384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:131383800-131384800	Enhancers	Adipose Nuclei	Adipose
46	chr8:131383800-131385000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:131383800-131385000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:131383800-131385200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:131383800-131385400	Enhancers	Osteobl	bone
50	chr8:131383800-131393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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