Variant report

Variant	rs17009802
Chromosome Location	chr2:30795519-30795520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30793897..30796151-chr2:30800848..30803806,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1252651	1.00[YRI][hapmap]
rs17009647	1.00[YRI][hapmap]
rs17009815	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57890362	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58730941	0.87[AMR][1000 genomes]
rs59120669	0.87[AMR][1000 genomes]
rs59228351	0.87[AMR][1000 genomes]
rs59450374	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60847386	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61006780	0.82[AFR][1000 genomes]
rs61232451	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6714637	0.87[AMR][1000 genomes]
rs6718986	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs6761612	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs72856691	0.87[AMR][1000 genomes]
rs72858915	0.87[AMR][1000 genomes]
rs72858918	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72858941	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72858980	0.95[AFR][1000 genomes]
rs72858981	0.93[AFR][1000 genomes]
rs72858988	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72863019	0.87[AMR][1000 genomes]
rs72863027	0.87[AMR][1000 genomes]
rs829653	1.00[YRI][hapmap]
rs829664	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs866680	1.00[YRI][hapmap]

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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30749000-30812600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30757800-30809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
4	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:30759200-30805600	Weak transcription	K562	blood
6	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
8	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
10	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:30784000-30812200	Weak transcription	NH-A	brain
15	chr2:30784600-30798800	Weak transcription	Liver	Liver
16	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:30785200-30806800	Weak transcription	Lung	lung
19	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:30785800-30802800	Weak transcription	Dnd41	blood
22	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
27	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:30787800-30795600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:30789000-30797600	Weak transcription	Pancreas	Pancrea
35	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
37	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
39	chr2:30789600-30797600	Weak transcription	NHLF	lung
40	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
41	chr2:30789800-30805400	Weak transcription	Ovary	ovary
42	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:30790800-30797200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
46	chr2:30791200-30797400	Weak transcription	Fetal Heart	heart
47	chr2:30791200-30801600	Weak transcription	A549	lung
48	chr2:30792200-30797200	Weak transcription	Fetal Thymus	thymus
49	chr2:30792400-30797200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:30792400-30799400	Weak transcription	HepG2	liver

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