Variant report

Variant	rs10908512
Chromosome Location	chr1:153856498-153856499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153849989..153852595-chr1:153855746..153857294,2	MCF-7	breast:
2	chr1:153854488..153856914-chr1:153893554..153896712,3	K562	blood:
3	chr1:153856433..153859300-chr1:153861068..153863020,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143614	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10127484	0.81[EUR][1000 genomes]
rs10494303	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10908525	0.85[EUR][1000 genomes]
rs10908526	0.85[EUR][1000 genomes]
rs11264573	0.86[EUR][1000 genomes]
rs11264621	0.81[EUR][1000 genomes]
rs11800001	0.88[EUR][1000 genomes]
rs12142639	0.87[EUR][1000 genomes]
rs12142733	0.90[EUR][1000 genomes]
rs2252508	0.84[EUR][1000 genomes]
rs35711150	0.88[EUR][1000 genomes]
rs3791186	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4276953	0.84[EUR][1000 genomes]
rs4540690	0.81[EUR][1000 genomes]
rs7414227	0.85[EUR][1000 genomes]
rs7415004	0.88[EUR][1000 genomes]
rs7522030	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153825800-153887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:153830200-153863600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:153837000-153893000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:153842400-153859400	Weak transcription	Hela-S3	cervix
5	chr1:153842600-153862400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:153842800-153862800	Weak transcription	Thymus	Thymus
7	chr1:153846200-153894200	Weak transcription	Esophagus	oesophagus
8	chr1:153846400-153871600	Weak transcription	Lung	lung
9	chr1:153849800-153859200	Weak transcription	Psoas Muscle	Psoas
10	chr1:153850200-153858600	Weak transcription	Dnd41	blood
11	chr1:153853400-153856600	Enhancers	K562	blood
12	chr1:153853800-153864800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:153853800-153892200	Weak transcription	Pancreas	Pancrea
14	chr1:153853800-153893400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:153854000-153859800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:153854000-153869200	Weak transcription	HepG2	liver
17	chr1:153854000-153892600	Weak transcription	Colonic Mucosa	Colon
18	chr1:153854200-153856600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:153854200-153858800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:153854200-153859400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:153854400-153856600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:153854400-153876200	Weak transcription	Spleen	Spleen
23	chr1:153854400-153892400	Weak transcription	Aorta	Aorta
24	chr1:153854600-153856800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:153854600-153859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:153854600-153859800	Weak transcription	Placenta	Placenta
27	chr1:153854600-153865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:153854600-153892200	Weak transcription	HSMM	muscle
29	chr1:153854800-153871200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:153855000-153857600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:153855000-153858400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:153855000-153859000	Weak transcription	Fetal Thymus	thymus
33	chr1:153855000-153859400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:153855000-153861600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:153855000-153866200	Weak transcription	Left Ventricle	heart
36	chr1:153855000-153886800	Weak transcription	Gastric	stomach
37	chr1:153855000-153886800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:153855000-153887200	Weak transcription	Ovary	ovary
39	chr1:153855000-153891800	Weak transcription	NHEK	skin
40	chr1:153855000-153892400	Weak transcription	NHLF	lung
41	chr1:153855000-153892800	Weak transcription	NH-A	brain
42	chr1:153855200-153858800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:153855200-153860000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:153855200-153860000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:153855200-153860200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:153855200-153860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:153855200-153862400	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:153855200-153865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:153855200-153865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:153855200-153871200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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