Variant report

Variant	rs12621561
Chromosome Location	chr2:153547789-153547790
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	chr2:153547188..153548752-chr2:153551003..153552801,2	K562	blood:
2	chr2:153543054..153544558-chr2:153544937..153547868,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10172024	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs10181485	0.91[ASN][1000 genomes]
rs10200667	0.88[ASN][1000 genomes]
rs1036526	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1065266	0.94[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10931229	0.94[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs1128804	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs11544718	0.91[ASN][1000 genomes]
rs11899051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12477881	0.88[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12693415	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12997814	0.91[ASN][1000 genomes]
rs13005368	0.88[ASN][1000 genomes]
rs13010731	0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs13017428	0.88[ASN][1000 genomes]
rs13031469	0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs13417781	0.83[CHB][hapmap]
rs13419068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370498	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs1437678	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs16831548	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs16831740	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17328734	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs17400645	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1962313	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1986743	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992146	0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs2118377	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs2304556	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2304559	0.91[ASN][1000 genomes]
rs2346534	0.91[ASN][1000 genomes]
rs2346539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346540	1.00[ASN][1000 genomes]
rs2346541	0.88[ASN][1000 genomes]
rs2346542	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2346543	0.94[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2346549	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2346550	0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs3171980	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs3175	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs34668102	0.91[ASN][1000 genomes]
rs3748937	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748938	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748939	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs3762503	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs3762506	0.91[ASN][1000 genomes]
rs3762507	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs3811566	0.88[ASN][1000 genomes]
rs4233660	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4267470	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4580346	0.91[ASN][1000 genomes]
rs4664121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664122	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs4664601	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs4664602	0.87[ASN][1000 genomes]
rs4664604	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs4664605	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664606	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4664607	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs4664609	0.97[ASN][1000 genomes]
rs4664610	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs56283545	0.81[ASN][1000 genomes]
rs61049574	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434128	0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs6434161	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs6434162	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs6713779	0.91[ASN][1000 genomes]
rs6723574	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727279	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6734194	0.88[CHB][hapmap]
rs6744923	0.88[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs6746079	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746321	0.91[ASN][1000 genomes]
rs6748160	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs715047	0.81[ASN][1000 genomes]
rs72871191	1.00[ASN][1000 genomes]
rs72872607	1.00[ASN][1000 genomes]
rs7556673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558920	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7559219	0.88[ASN][1000 genomes]
rs7560393	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7570759	0.88[ASN][1000 genomes]
rs7576152	0.85[ASN][1000 genomes]
rs7576847	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7582253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589899	0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7592669	0.88[ASN][1000 genomes]
rs7593347	0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs7596408	0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs7599946	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7605709	0.88[ASN][1000 genomes]
rs7608603	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288121	0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs9288125	0.94[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs9288127	0.91[ASN][1000 genomes]
rs9646744	0.88[ASN][1000 genomes]
rs9789505	1.00[ASN][1000 genomes]
rs9789521	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:153518400-153551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:153518800-153558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:153523000-153557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153525000-153557800	Weak transcription	Lung	lung
8	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
9	chr2:153532400-153550800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153533200-153549000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:153533200-153551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:153533200-153551600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:153533200-153558000	Weak transcription	Colonic Mucosa	Colon
14	chr2:153533400-153549600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:153533400-153557800	Weak transcription	Fetal Stomach	stomach
16	chr2:153533400-153558600	Weak transcription	Aorta	Aorta
17	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:153533800-153550200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:153533800-153558000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
21	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:153536200-153550200	Weak transcription	NHLF	lung
23	chr2:153537200-153549000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:153537200-153557200	Weak transcription	Thymus	Thymus
25	chr2:153537400-153550600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:153537600-153548600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:153537600-153550600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:153537600-153557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:153537600-153558400	Weak transcription	Fetal Brain Female	brain
31	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:153537800-153548400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:153537800-153548800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:153537800-153548800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:153537800-153548800	Weak transcription	Fetal Lung	lung
36	chr2:153537800-153549000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:153537800-153549600	Weak transcription	Hela-S3	cervix
38	chr2:153537800-153550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:153537800-153550800	Weak transcription	Brain Substantia Nigra	brain
40	chr2:153537800-153557800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:153538000-153548400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:153538000-153548600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:153538000-153550600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:153538000-153550600	Weak transcription	HSMMtube	muscle
45	chr2:153538400-153549800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:153538400-153550600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:153539400-153548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:153539600-153548800	Weak transcription	Left Ventricle	heart
49	chr2:153539600-153549200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:153539600-153549600	Weak transcription	NHDF-Ad	bronchial

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