Variant report

Variant	rs12622724
Chromosome Location	chr2:173324908-173324909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10187564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10207640	1.00[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10207654	1.00[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10208194	0.81[ASN][1000 genomes]
rs1076596	0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs10930559	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930561	0.83[CHB][hapmap]
rs12052253	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052385	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs12053442	0.82[EUR][1000 genomes]
rs12464480	0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs12613307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615584	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12615596	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12616256	0.82[ASN][1000 genomes]
rs12621278	1.00[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622816	0.82[ASN][1000 genomes]
rs13410475	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13414928	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1530864	0.83[CHB][hapmap]
rs1530865	0.83[CHB][hapmap]
rs1574256	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1574259	1.00[CEU][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16860397	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs16860419	0.96[EUR][1000 genomes]
rs16860426	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16860438	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16860450	0.82[ASN][1000 genomes]
rs16860478	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860513	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs16860515	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16860634	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16860643	0.86[ASN][1000 genomes]
rs16860693	0.83[CHB][hapmap]
rs2293645	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293647	1.00[CEU][hapmap];0.89[CHD][hapmap]
rs2293648	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28485589	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28595036	0.81[ASN][1000 genomes]
rs34526119	0.82[ASN][1000 genomes]
rs35180608	0.82[ASN][1000 genomes]
rs35288169	0.82[ASN][1000 genomes]
rs35700760	0.82[ASN][1000 genomes]
rs35861954	0.82[ASN][1000 genomes]
rs36040769	0.81[ASN][1000 genomes]
rs3762618	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4405725	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55867175	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56882727	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56892098	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57244773	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57404607	0.82[EUR][1000 genomes]
rs57587465	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57878744	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59374567	0.82[EUR][1000 genomes]
rs59454075	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59476799	0.85[ASN][1000 genomes]
rs59970483	0.82[EUR][1000 genomes]
rs60096331	0.82[EUR][1000 genomes]
rs6726739	0.81[ASN][1000 genomes]
rs6730284	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6741759	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6743174	0.84[ASN][1000 genomes]
rs68069880	0.82[ASN][1000 genomes]
rs7564416	0.81[ASN][1000 genomes]
rs9636257	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:173320000-173325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:173320800-173325400	Enhancers	HMEC	breast
11	chr2:173320800-173326200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:173321000-173325400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:173321000-173326000	Weak transcription	HepG2	liver
14	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
15	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:173321200-173325200	Weak transcription	Hela-S3	cervix
17	chr2:173321200-173325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:173321200-173325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:173321200-173325800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:173321200-173326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:173321200-173326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
24	chr2:173321400-173325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:173321400-173325400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:173321400-173325600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:173321400-173325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:173321400-173325800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:173321400-173326000	Weak transcription	Fetal Intestine Large	intestine
30	chr2:173321400-173326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:173321400-173326200	Weak transcription	Gastric	stomach
32	chr2:173321400-173326200	Weak transcription	Lung	lung
33	chr2:173321400-173326200	Weak transcription	Right Atrium	heart
34	chr2:173321400-173326400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:173321400-173327000	Weak transcription	Placenta	Placenta
36	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:173322000-173325600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:173322200-173326200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:173322200-173326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:173322400-173326600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr2:173322600-173325800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:173322600-173326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:173322600-173327000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:173322600-173327200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:173322600-173327400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:173322800-173326200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:173322800-173326200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr2:173323200-173326200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:173323200-173328400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:173323400-173325600	Weak transcription	HSMM	muscle

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