Variant report

Variant	rs1464817
Chromosome Location	chr2:30792076-30792077
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	chr2:30785460..30787626-chr2:30791866..30794044,2	K562	blood:
2	chr2:30784836..30788020-chr2:30789591..30793366,5	K562	blood:

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

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

rs_ID	r²[population]
rs10197664	0.94[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10205934	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10495776	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs1096110	0.88[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11127276	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs1113661	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676852	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11678346	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1252644	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12612080	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616814	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621663	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12714308	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2363073	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2593432	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs2593438	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs2609927	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712951	0.94[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs711242	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71412838	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs736256	0.82[CEU][hapmap]
rs7602714	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829626	0.87[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829628	0.88[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829668	0.85[EUR][1000 genomes]
rs9789517	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	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:82 , 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	chr2:30758200-30795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
5	chr2:30758800-30809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:30759200-30805600	Weak transcription	K562	blood
7	chr2:30764000-30792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:30765000-30793600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:30766800-30810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:30773400-30792200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:30774200-30793200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30774800-30812000	Weak transcription	Fetal Lung	lung
13	chr2:30777000-30815800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:30781200-30795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:30783000-30793000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:30783400-30806000	Weak transcription	GM12878-XiMat	blood
17	chr2:30783400-30819800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:30783800-30793000	Weak transcription	Fetal Stomach	stomach
19	chr2:30783800-30796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:30784000-30797400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:30784000-30812200	Weak transcription	NH-A	brain
23	chr2:30784200-30793400	Strong transcription	Primary B cells from cord blood	blood
24	chr2:30784400-30793200	Weak transcription	Placenta	Placenta
25	chr2:30784600-30792600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:30784600-30793800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:30784600-30798800	Weak transcription	Liver	Liver
28	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:30785000-30794400	Weak transcription	HMEC	breast
31	chr2:30785200-30806800	Weak transcription	Lung	lung
32	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:30785800-30802800	Weak transcription	Dnd41	blood
35	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:30786400-30797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:30786600-30794400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:30786600-30797400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:30786600-30797800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
41	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:30786800-30795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:30786800-30797200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:30787800-30795600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:30788200-30794800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:30788800-30794000	Weak transcription	Hela-S3	cervix

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