Variant report

Variant	rs2127135
Chromosome Location	chr1:150060482-150060483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150053480..150056839-chr1:150057384..150063028,6	MCF-7	breast:
2	chr1:150053441..150055010-chr1:150059961..150062562,2	MCF-7	breast:
3	chr1:150046481..150048286-chr1:150058057..150060718,2	K562	blood:
4	chr1:150054807..150057668-chr1:150058384..150060977,2	K562	blood:
5	chr1:150039451..150041608-chr1:150059583..150061314,2	K562	blood:
6	chr1:150059899..150062299-chr1:150132296..150134996,2	K562	blood:

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10749675	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10888570	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205334	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1531578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1531579	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1531580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3904949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926404	1.00[AMR][1000 genomes]
rs4926410	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6587749	1.00[AFR][1000 genomes]
rs6587750	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518829	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9325998	0.86[AFR][1000 genomes];1.00[AMR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers 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 target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150040400-150061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine
5	chr1:150040400-150086800	Weak transcription	Esophagus	oesophagus
6	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
7	chr1:150040600-150072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:150040600-150092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:150041000-150064000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:150041000-150114400	Weak transcription	Right Ventricle	heart
11	chr1:150041400-150066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:150041400-150067800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:150041400-150069200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:150042200-150073400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:150042200-150086600	Weak transcription	Gastric	stomach
16	chr1:150042400-150063200	Weak transcription	NHEK	skin
17	chr1:150042400-150067600	Weak transcription	Psoas Muscle	Psoas
18	chr1:150042600-150090800	Weak transcription	Stomach Mucosa	stomach
19	chr1:150048400-150068400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:150048600-150061000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:150048800-150064000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:150050200-150065600	Weak transcription	Fetal Brain Male	brain
23	chr1:150050400-150064000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:150050600-150067200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:150050600-150084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:150051200-150065400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:150051600-150065400	Weak transcription	HSMMtube	muscle
28	chr1:150051800-150064000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:150052000-150071400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:150052000-150116800	Weak transcription	Spleen	Spleen
31	chr1:150052800-150061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:150053600-150061000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:150053800-150060600	Strong transcription	Primary B cells from cord blood	blood
34	chr1:150055000-150060600	Weak transcription	Fetal Stomach	stomach
35	chr1:150055000-150063800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:150055000-150086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:150055000-150100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:150055000-150120800	Weak transcription	Aorta	Aorta
39	chr1:150055200-150062000	Weak transcription	Fetal Heart	heart
40	chr1:150055200-150065600	Weak transcription	Colonic Mucosa	Colon
41	chr1:150055200-150069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:150055200-150078400	Weak transcription	Thymus	Thymus
43	chr1:150055200-150096000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:150055200-150104800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:150055400-150065600	Weak transcription	Hela-S3	cervix
46	chr1:150055400-150067200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:150055600-150065600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:150055600-150076400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:150055800-150064400	Weak transcription	HepG2	liver
50	chr1:150056000-150072200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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