Variant report

Variant	rs12616814
Chromosome Location	chr2:30798923-30798924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30798884..30802949-chr2:30883124..30885929,3	K562	blood:
2	chr2:30797165..30799118-chr2:30800641..30802160,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10197664	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10205934	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495776	0.92[JPT][hapmap]
rs1096110	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11127276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1113661	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11678346	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1252644	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1252655	0.81[JPT][hapmap]
rs12612080	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12621663	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714308	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993664	0.80[CHB][hapmap]
rs1464817	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]
rs2363073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2593432	0.89[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2593438	0.89[CHB][hapmap];0.92[JPT][hapmap]
rs2609922	0.80[EUR][1000 genomes]
rs2609927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6712951	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs711242	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71412838	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736256	0.85[JPT][hapmap]
rs7602714	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829626	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829628	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829668	0.85[EUR][1000 genomes]
rs9789517	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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:67 , 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	chr2:30783800-30811000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:30784000-30812200	Weak transcription	NH-A	brain
13	chr2:30784800-30802400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:30784800-30804000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:30785200-30806800	Weak transcription	Lung	lung
16	chr2:30785200-30826600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:30785400-30818800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:30785800-30802800	Weak transcription	Dnd41	blood
19	chr2:30786200-30806400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:30786600-30808200	Weak transcription	Left Ventricle	heart
21	chr2:30786600-30818200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:30786600-30822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:30786800-30806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:30786800-30807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:30786800-30818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30789000-30799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:30789000-30816600	Weak transcription	Esophagus	oesophagus
28	chr2:30789200-30810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:30789200-30818800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:30789800-30799400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:30789800-30805400	Weak transcription	Ovary	ovary
32	chr2:30790200-30802400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:30790400-30811600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:30790800-30812200	Weak transcription	Right Ventricle	heart
35	chr2:30791200-30801600	Weak transcription	A549	lung
36	chr2:30792400-30799400	Weak transcription	HepG2	liver
37	chr2:30792400-30810200	Weak transcription	NHEK	skin
38	chr2:30792600-30802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:30792800-30802200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:30792800-30818400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:30792800-30818800	Weak transcription	Fetal Kidney	kidney
43	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:30793000-30811800	Weak transcription	NHDF-Ad	bronchial
45	chr2:30793400-30802600	Weak transcription	Primary B cells from cord blood	blood
46	chr2:30793400-30805200	Weak transcription	HSMM	muscle
47	chr2:30796400-30799400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:30796400-30803200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:30796600-30799200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:30796600-30799400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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