Variant report

Variant	rs3136405
Chromosome Location	chr8:95448710-95448711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95448512..95450630-chr8:95487309..95488900,2	K562	blood:
2	chr8:95446159..95448906-chr8:95449268..95451697,2	K562	blood:
3	chr8:95448469..95450952-chr8:95730677..95732921,2	K562	blood:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10504937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12541117	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	1.00[ASN][1000 genomes]
rs12542622	1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12543605	0.92[AMR][1000 genomes]
rs12548615	1.00[ASN][1000 genomes]
rs16916769	1.00[ASN][1000 genomes]
rs16916798	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2028429	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2046663	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2381828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	1.00[ASN][1000 genomes]
rs3136403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34019009	0.91[ASN][1000 genomes]
rs4734277	1.00[ASN][1000 genomes]
rs4735290	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	1.00[ASN][1000 genomes]
rs57108375	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59233901	1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	1.00[ASN][1000 genomes]
rs60654408	1.00[ASN][1000 genomes]
rs60894328	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61410835	1.00[ASN][1000 genomes]
rs6991270	1.00[ASN][1000 genomes]
rs6991551	1.00[ASN][1000 genomes]
rs6991746	1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	1.00[ASN][1000 genomes]
rs73271953	1.00[ASN][1000 genomes]
rs73271959	1.00[ASN][1000 genomes]
rs73271964	1.00[ASN][1000 genomes]
rs73271995	1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7845278	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891202	chr8:95445660-95456986	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95444000-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:95444800-95449600	Active TSS	GM12878-XiMat	blood
5	chr8:95445600-95448800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:95445600-95455000	Weak transcription	Dnd41	blood
7	chr8:95446400-95449000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:95446400-95449200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:95446400-95449200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:95446400-95449400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:95446600-95448800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:95446600-95449200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:95446600-95449200	Active TSS	Brain Anterior Caudate	brain
14	chr8:95446600-95449400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:95446800-95448800	Active TSS	HMEC	breast
16	chr8:95446800-95449200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95446800-95449200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95446800-95449200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:95447200-95448800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:95447200-95448800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr8:95447200-95448800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:95447200-95448800	Active TSS	Adipose Nuclei	Adipose
23	chr8:95447200-95448800	Active TSS	Colon Smooth Muscle	Colon
24	chr8:95447200-95448800	Active TSS	HSMMtube	muscle
25	chr8:95447200-95448800	Active TSS	NHLF	lung
26	chr8:95447200-95449000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:95447200-95449000	Active TSS	Fetal Stomach	stomach
28	chr8:95447200-95449000	Active TSS	Right Ventricle	heart
29	chr8:95447200-95449200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr8:95447200-95449200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr8:95447200-95449200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:95447200-95449400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:95447200-95449400	Active TSS	Psoas Muscle	Psoas
34	chr8:95447200-95449600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:95447200-95449600	Active TSS	Ovary	ovary
36	chr8:95447200-95449600	Active TSS	Right Atrium	heart
37	chr8:95447200-95449600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:95447400-95448800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr8:95447400-95448800	Active TSS	Rectal Smooth Muscle	rectum
40	chr8:95447400-95449000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:95447400-95449000	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:95447400-95449000	Active TSS	HSMM	muscle
43	chr8:95447400-95449200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr8:95447400-95449200	Active TSS	Aorta	Aorta
45	chr8:95447400-95449200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:95447400-95449200	Active TSS	Fetal Muscle Leg	muscle
47	chr8:95447400-95449400	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:95447400-95449600	Active TSS	Brain Substantia Nigra	brain
49	chr8:95447400-95449800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr8:95447600-95448800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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