Variant report

Variant	rs10495144
Chromosome Location	chr1:220403671-220403672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220403099..220406087-chr1:220921390..220923561,2	MCF-7	breast:
2	chr1:220401875..220404587-chr1:220444180..220446507,2	K562	blood:
3	chr1:220401289..220404210-chr1:220406154..220407744,2	MCF-7	breast:
4	chr1:220403586..220405327-chr1:220408780..220410379,2	K562	blood:
5	chr1:220401657..220404587-chr1:220444540..220446507,3	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction
ENSG00000117791	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1033107	0.85[AMR][1000 genomes]
rs10863535	0.85[AMR][1000 genomes]
rs11118502	0.85[AMR][1000 genomes]
rs11118505	0.85[AMR][1000 genomes]
rs12062286	0.87[AFR][1000 genomes]
rs12066759	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070983	0.85[AMR][1000 genomes]
rs2491268	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667960	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667961	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667963	1.00[AMR][1000 genomes]
rs2789791	0.85[AMR][1000 genomes]
rs2808010	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2808017	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814493	0.85[AMR][1000 genomes]
rs4445474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9431233	0.92[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220374600-220407600	Weak transcription	Fetal Brain Male	brain
2	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:220379200-220409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220379200-220410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:220384200-220404400	Weak transcription	Ovary	ovary
8	chr1:220384200-220408800	Weak transcription	A549	lung
9	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
10	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
11	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220384400-220413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:220384800-220404400	Weak transcription	HSMMtube	muscle
14	chr1:220384800-220408000	Weak transcription	Hela-S3	cervix
15	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:220385000-220403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:220385000-220405000	Weak transcription	Placenta	Placenta
18	chr1:220385400-220409000	Weak transcription	NH-A	brain
19	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
20	chr1:220385600-220408000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:220386200-220404000	Weak transcription	NHEK	skin
22	chr1:220393000-220405400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
24	chr1:220393200-220408800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:220393200-220413400	Weak transcription	Fetal Heart	heart
26	chr1:220393400-220403800	Weak transcription	Fetal Lung	lung
27	chr1:220393400-220404000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:220393400-220405000	Weak transcription	Osteobl	bone
29	chr1:220393400-220411400	Weak transcription	Fetal Brain Female	brain
30	chr1:220393800-220425800	Weak transcription	Gastric	stomach
31	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
32	chr1:220394400-220407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:220396600-220404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:220397200-220404400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:220398200-220406200	Strong transcription	Primary T cells from cord blood	blood
36	chr1:220398200-220406400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:220398600-220406400	Weak transcription	Brain Germinal Matrix	brain
39	chr1:220398800-220407000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:220399000-220405400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:220399000-220405600	Weak transcription	Aorta	Aorta
42	chr1:220399000-220406200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:220399000-220406800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:220399000-220407400	Weak transcription	Small Intestine	intestine
45	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:220399200-220404200	Weak transcription	Colonic Mucosa	Colon
47	chr1:220399200-220404600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:220399200-220405600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:220399200-220405600	Weak transcription	Brain Substantia Nigra	brain
50	chr1:220399200-220406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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