Variant report

Variant	rs2010930
Chromosome Location	chr2:20241593-20241594
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20239516..20241973-chr2:20242633..20244328,2	MCF-7	breast:
2	chr2:20235298..20239645-chr2:20240802..20243443,5	K562	blood:
3	chr2:20239173..20241754-chr3:122981267..122982914,2	MCF-7	breast:
4	chr2:20233000..20234646-chr2:20240342..20243953,3	MCF-7	breast:
5	chr2:20239886..20242737-chr2:20245046..20246984,2	K562	blood:
6	chr2:20235025..20246171-chr2:20248104..20254249,17	MCF-7	breast:
7	chr2:20239345..20241750-chr2:20293079..20295990,2	K562	blood:
8	chr2:20240719..20242263-chr2:20244475..20246120,2	MCF-7	breast:
9	chr2:20236723..20239351-chr2:20240992..20243680,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1016317	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1028051	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12052278	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233028	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12478941	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987297	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754907	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3754908	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666354	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55920955	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57887920	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57965673	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60557282	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109428	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs768377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20227000-20242000	Strong transcription	Primary T cells from cord blood	blood
3	chr2:20227000-20242400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:20227200-20242200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:20227800-20242200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:20228000-20242000	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:20228200-20242600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:20230000-20242200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:20230200-20241600	Strong transcription	HepG2	liver
10	chr2:20230200-20241800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:20230200-20242200	Strong transcription	Fetal Brain Female	brain
12	chr2:20230400-20241600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:20230400-20242200	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:20230600-20242600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:20230600-20248000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:20232800-20241600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:20234800-20248200	Weak transcription	Psoas Muscle	Psoas
18	chr2:20235000-20248000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20235400-20247400	Weak transcription	Fetal Brain Male	brain
20	chr2:20235800-20241600	Strong transcription	Brain Angular Gyrus	brain
21	chr2:20236400-20242800	Weak transcription	Right Atrium	heart
22	chr2:20236600-20241600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:20236600-20241600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:20236600-20245000	Strong transcription	Primary B cells from cord blood	blood
25	chr2:20236600-20248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:20236800-20241600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:20236800-20246600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:20237800-20249000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:20238000-20248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:20238600-20243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:20238600-20248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:20238800-20247800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:20239800-20242400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:20239800-20242600	Weak transcription	Spleen	Spleen
35	chr2:20240000-20242800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:20240200-20241600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:20240200-20241800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:20240400-20245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:20240600-20241800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:20240600-20241800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:20240600-20241800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:20240600-20241800	Weak transcription	Lung	lung
43	chr2:20240600-20242000	Enhancers	Hela-S3	cervix
44	chr2:20240600-20242200	Weak transcription	Right Ventricle	heart
45	chr2:20240600-20243200	Weak transcription	Brain Substantia Nigra	brain
46	chr2:20240600-20243400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:20240600-20243400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:20240600-20243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:20240600-20244000	Enhancers	HUVEC	blood vessel
50	chr2:20240600-20244200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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