Variant report

Variant	rs10957153
Chromosome Location	chr8:61593569-61593570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59570989..59573111-chr8:61592746..61594650,2	MCF-7	breast:
2	chr8:61592636..61594603-chr8:61965419..61967444,2	MCF-7	breast:
3	chr8:61592791..61594650-chr8:61754871..61757414,2	K562	blood:
4	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
5	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
6	chr8:61571219..61575228-chr8:61591571..61593615,3	MCF-7	breast:
7	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254869	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000035681	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10808712	0.81[YRI][hapmap]
rs11989002	0.81[EUR][1000 genomes]
rs16926382	0.92[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6981399	0.92[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6987676	0.86[ASN][1000 genomes]
rs6994642	0.81[GIH][hapmap];0.92[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv824659	chr8:61586207-61596149	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv3355358	chr8:61590823-61593571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:61590000-61593800	Active TSS	HMEC	breast
4	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:61590400-61593600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:61590400-61593600	Active TSS	Colon Smooth Muscle	Colon
10	chr8:61590400-61593600	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:61590400-61593600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:61590400-61593600	Active TSS	Hela-S3	cervix
13	chr8:61590400-61593800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:61590400-61593800	Active TSS	Brain Hippocampus Middle	brain
15	chr8:61590400-61593800	Active TSS	Colonic Mucosa	Colon
16	chr8:61590400-61593800	Active TSS	Fetal Intestine Large	intestine
17	chr8:61590400-61593800	Active TSS	Fetal Intestine Small	intestine
18	chr8:61590400-61593800	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:61590400-61593800	Active TSS	GM12878-XiMat	blood
20	chr8:61590400-61593800	Active TSS	HSMMtube	muscle
21	chr8:61590400-61594000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:61590400-61594000	Active TSS	Duodenum Mucosa	Duodenum
23	chr8:61590400-61594000	Active TSS	Psoas Muscle	Psoas
24	chr8:61590400-61594000	Active TSS	Right Atrium	heart
25	chr8:61590400-61594000	Active TSS	Right Ventricle	heart
26	chr8:61590400-61594000	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:61590400-61594000	Active TSS	HSMM	muscle
28	chr8:61590400-61594200	Active TSS	Brain Anterior Caudate	brain
29	chr8:61590400-61594400	Active TSS	Brain Cingulate Gyrus	brain
30	chr8:61590600-61593600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:61590600-61593600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:61590600-61593600	Active TSS	Brain Substantia Nigra	brain
33	chr8:61590600-61593800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:61590600-61593800	Active TSS	Brain Angular Gyrus	brain
35	chr8:61590600-61593800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr8:61590600-61594000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:61590600-61594000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:61590600-61594000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr8:61590600-61594200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:61590600-61594200	Active TSS	Fetal Brain Female	brain
41	chr8:61590800-61593600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr8:61590800-61593600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:61590800-61593600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr8:61590800-61593600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:61590800-61593600	Active TSS	Primary T cells from cord blood	blood
46	chr8:61590800-61593600	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:61590800-61593600	Active TSS	Fetal Lung	lung
48	chr8:61590800-61593800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr8:61590800-61593800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:61590800-61593800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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