Variant report

Variant	rs1191817
Chromosome Location	chr2:20227198-20227199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20226527..20228627-chr2:20238902..20240937,2	K562	blood:
2	chr2:20226540..20229292-chr2:20236762..20238509,2	MCF-7	breast:
3	chr2:20099594..20101942-chr2:20226231..20228196,2	K562	blood:
4	chr2:20225520..20228752-chr2:20271563..20273448,3	MCF-7	breast:
5	chr2:20208645..20229804-chr2:20247969..20254330,37	MCF-7	breast:
6	chr2:20211636..20214222-chr2:20226040..20228717,2	MCF-7	breast:
7	chr2:20225886..20230691-chr2:20231442..20234777,5	MCF-7	breast:
8	chr2:20225773..20228023-chr2:20269554..20271125,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271991	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1016316	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11689320	0.85[EUR][1000 genomes]
rs11694170	0.82[EUR][1000 genomes]
rs11695154	0.84[EUR][1000 genomes]
rs1191805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1191809	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1191810	0.91[AMR][1000 genomes]
rs1191811	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1191812	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1473890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1513830	0.84[EUR][1000 genomes]
rs1513831	0.82[EUR][1000 genomes]
rs16987338	0.81[EUR][1000 genomes]
rs2244939	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2704611	0.81[AFR][1000 genomes]
rs34539547	0.87[EUR][1000 genomes]
rs36071721	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731673	0.85[EUR][1000 genomes]
rs3769759	0.85[EUR][1000 genomes]
rs3769760	0.85[EUR][1000 genomes]
rs3769762	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs62109431	0.85[EUR][1000 genomes]
rs6706375	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs6720508	0.82[EUR][1000 genomes]
rs7558777	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7558988	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7570360	0.86[EUR][1000 genomes]
rs7587612	0.81[EUR][1000 genomes]

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20213000-20227200	Weak transcription	Ovary	ovary
2	chr2:20213400-20227400	Weak transcription	Fetal Kidney	kidney
3	chr2:20213400-20232200	Weak transcription	Right Ventricle	heart
4	chr2:20216400-20227800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:20216400-20228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:20221400-20227200	Weak transcription	Fetal Lung	lung
7	chr2:20221400-20228200	Weak transcription	Fetal Stomach	stomach
8	chr2:20221400-20230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:20221400-20230000	Weak transcription	Colonic Mucosa	Colon
10	chr2:20221400-20233200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:20221600-20227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:20221600-20228200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:20222200-20227800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:20222200-20229800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:20222400-20231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:20222600-20230000	Weak transcription	Pancreas	Pancrea
18	chr2:20222800-20228000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:20222800-20233200	Weak transcription	Right Atrium	heart
20	chr2:20223000-20229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:20223000-20230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:20223000-20233000	Weak transcription	NHEK	skin
23	chr2:20223200-20227200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:20223800-20227200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:20223800-20232200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:20224600-20227200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:20224800-20227200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:20224800-20227800	Weak transcription	Brain Germinal Matrix	brain
29	chr2:20225000-20227200	Weak transcription	Primary B cells from cord blood	blood
30	chr2:20225000-20227200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:20225000-20227200	Weak transcription	Fetal Thymus	thymus
32	chr2:20225000-20230000	Weak transcription	Lung	lung
33	chr2:20225200-20231000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:20225400-20227400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:20225400-20227400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:20225400-20227600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:20225400-20228000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:20225400-20228400	Weak transcription	Dnd41	blood
39	chr2:20225400-20228800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:20225400-20230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:20225400-20230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:20225400-20230000	Weak transcription	NHLF	lung
43	chr2:20225400-20231200	Weak transcription	HMEC	breast
44	chr2:20225400-20240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:20225600-20227200	Weak transcription	NH-A	brain
46	chr2:20225600-20227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:20225600-20228200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:20225600-20228400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:20225600-20230000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:20225600-20230000	Weak transcription	Thymus	Thymus

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