Variant report

Variant	rs72848624
Chromosome Location	chr2:128139393-128139394
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: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	chr2:128138736..128141461-chr2:128164363..128167331,3	K562	blood:
2	chr2:128138507..128141090-chr2:128155679..128157523,2	K562	blood:
3	chr2:128131816..128133324-chr2:128137247..128139883,2	K562	blood:
4	chr2:128122312..128124087-chr2:128136943..128139577,2	MCF-7	breast:
5	chr2:128138206..128141500-chr2:128143430..128146717,5	MCF-7	breast:
6	chr2:128136753..128139977-chr2:128144092..128148521,5	K562	blood:
7	chr2:128137858..128139956-chr2:128145851..128148830,3	K562	blood:
8	chr2:128134227..128136528-chr2:128137224..128139404,2	K562	blood:
9	chr2:128138155..128140236-chr2:128165831..128168252,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction
ENSG00000236682	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1803541	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2069892	0.83[EUR][1000 genomes]
rs2069907	0.83[EUR][1000 genomes]
rs2069934	0.83[EUR][1000 genomes]
rs2069939	0.83[EUR][1000 genomes]
rs3732210	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150459	0.95[EUR][1000 genomes]
rs4150460	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150468	0.95[EUR][1000 genomes]
rs4150480	0.95[EUR][1000 genomes]
rs4662574	0.81[EUR][1000 genomes]
rs55693032	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55871356	1.00[EUR][1000 genomes]
rs55926979	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56000604	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56033800	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56226037	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56287237	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56373535	0.95[EUR][1000 genomes]
rs56383408	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58877895	0.95[EUR][1000 genomes]
rs6708102	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6737103	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6755703	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845924	0.83[EUR][1000 genomes]
rs72845929	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845937	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72845942	0.90[EUR][1000 genomes]
rs72845943	0.90[EUR][1000 genomes]
rs72845953	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845958	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845960	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845961	0.88[EUR][1000 genomes]
rs72845963	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845964	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845966	0.95[EUR][1000 genomes]
rs72845967	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845968	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845969	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845970	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845971	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845972	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845973	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845978	0.95[EUR][1000 genomes]
rs72845980	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845983	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845984	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845988	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845989	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845992	0.95[EUR][1000 genomes]
rs72845995	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845996	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845998	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845999	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72846001	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72848605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848610	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72848614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848617	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848619	1.00[EUR][1000 genomes]
rs72848621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848623	1.00[EUR][1000 genomes]
rs72848625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848626	1.00[EUR][1000 genomes]
rs72848627	1.00[EUR][1000 genomes]
rs72848628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848635	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72848637	0.95[EUR][1000 genomes]
rs72848642	0.95[EUR][1000 genomes]
rs72848645	0.83[EUR][1000 genomes]
rs72848646	0.83[EUR][1000 genomes]
rs72848648	0.83[EUR][1000 genomes]
rs72848651	0.83[EUR][1000 genomes]
rs7559907	0.90[EUR][1000 genomes]
rs7581386	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7591595	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7591718	0.83[EUR][1000 genomes]
rs7599334	0.83[EUR][1000 genomes]
rs8179521	0.95[EUR][1000 genomes]

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128107800-128140200	Weak transcription	Gastric	stomach
2	chr2:128120800-128142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:128122200-128142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:128123400-128140400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
6	chr2:128124000-128140000	Weak transcription	Left Ventricle	heart
7	chr2:128128000-128144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:128128000-128144000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:128128400-128142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:128128600-128140000	Weak transcription	Aorta	Aorta
11	chr2:128129800-128140200	Weak transcription	Right Ventricle	heart
12	chr2:128132400-128140800	Weak transcription	Fetal Lung	lung
13	chr2:128132800-128144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:128133200-128142400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:128134200-128140200	Weak transcription	Ovary	ovary
16	chr2:128134200-128141400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:128134400-128140000	Weak transcription	Psoas Muscle	Psoas
18	chr2:128134400-128140200	Weak transcription	Lung	lung
19	chr2:128134400-128142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:128134400-128144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:128134600-128140600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:128134600-128142000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:128134600-128142200	Weak transcription	Thymus	Thymus
24	chr2:128134600-128142800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:128134600-128143000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:128134600-128143200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:128134600-128143600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:128134600-128143800	Weak transcription	Fetal Stomach	stomach
29	chr2:128134600-128143800	Weak transcription	Fetal Thymus	thymus
30	chr2:128134600-128144200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:128134600-128144400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:128134600-128144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:128135400-128139400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:128135400-128141000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:128135400-128141200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:128135400-128141600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:128135400-128144000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:128135600-128142000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:128135600-128142000	Weak transcription	Small Intestine	intestine
40	chr2:128135600-128142200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:128135600-128142200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:128135800-128142600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:128136000-128142200	Weak transcription	Primary B cells from cord blood	blood
44	chr2:128136000-128143600	Weak transcription	Osteobl	bone
45	chr2:128136400-128139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:128136400-128142200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:128136600-128142200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:128136600-128143200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:128136800-128140000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:128137000-128140600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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