Variant report

Variant	rs12107484
Chromosome Location	chr3:52632093-52632094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10510759	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11510435	1.00[EUR][1000 genomes]
rs17052357	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17052404	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1987234	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34173244	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35911561	0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs35920544	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4532127	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56134416	1.00[EUR][1000 genomes]
rs56156188	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56259931	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56276589	1.00[EUR][1000 genomes]
rs56665533	1.00[EUR][1000 genomes]
rs57008939	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57246324	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57298447	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57319306	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57560655	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs57757646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57789542	1.00[EUR][1000 genomes]
rs57869735	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57946083	1.00[EUR][1000 genomes]
rs58100002	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58409398	1.00[EUR][1000 genomes]
rs58528592	1.00[EUR][1000 genomes]
rs58564212	1.00[EUR][1000 genomes]
rs58725214	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58924550	0.85[AFR][1000 genomes]
rs59638016	1.00[EUR][1000 genomes]
rs59869286	1.00[EUR][1000 genomes]
rs60040519	1.00[EUR][1000 genomes]
rs60058353	1.00[EUR][1000 genomes]
rs60256157	1.00[EUR][1000 genomes]
rs60311166	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60415551	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60611300	0.89[AFR][1000 genomes]
rs60682984	0.89[AFR][1000 genomes]
rs60770874	1.00[EUR][1000 genomes]
rs60823713	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60830326	1.00[EUR][1000 genomes]
rs60916588	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61220667	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61538294	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6445536	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6762788	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6769720	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6774097	1.00[TSI][hapmap]
rs6780005	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6780397	1.00[EUR][1000 genomes]
rs72947535	0.85[AFR][1000 genomes]
rs72947580	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72947589	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72950424	1.00[EUR][1000 genomes]
rs72950430	0.85[AFR][1000 genomes]
rs72950432	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72950437	1.00[EUR][1000 genomes]
rs72960212	1.00[EUR][1000 genomes]
rs72960237	1.00[EUR][1000 genomes]
rs72960240	1.00[EUR][1000 genomes]
rs72960260	1.00[EUR][1000 genomes]
rs72960274	1.00[EUR][1000 genomes]
rs72960281	1.00[EUR][1000 genomes]
rs72960285	1.00[EUR][1000 genomes]
rs72965177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72965181	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73839126	1.00[EUR][1000 genomes]
rs73839129	1.00[EUR][1000 genomes]
rs7645785	1.00[EUR][1000 genomes]
rs764636	1.00[EUR][1000 genomes]
rs7647992	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648016	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs934839	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52572400-52633000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:52587200-52719200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:52591000-52688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:52592200-52719200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:52612000-52634800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:52612800-52634800	Weak transcription	A549	lung
7	chr3:52613200-52634000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:52613400-52635000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:52613400-52635000	Weak transcription	Fetal Brain Male	brain
10	chr3:52613600-52634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:52613600-52635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:52613600-52635200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:52613600-52635200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:52614200-52634800	Weak transcription	Small Intestine	intestine
15	chr3:52620600-52634800	Weak transcription	Aorta	Aorta
16	chr3:52620800-52634800	Weak transcription	Esophagus	oesophagus
17	chr3:52620800-52635000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:52620800-52635000	Weak transcription	NHEK	skin
19	chr3:52621600-52635800	Weak transcription	Hela-S3	cervix
20	chr3:52622200-52634200	Weak transcription	HUVEC	blood vessel
21	chr3:52622200-52635000	Weak transcription	Ovary	ovary
22	chr3:52623000-52635200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:52623200-52634200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:52623200-52634200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:52623200-52634400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:52623200-52634800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:52623200-52635400	Weak transcription	HMEC	breast
28	chr3:52623400-52632600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:52623400-52634000	Weak transcription	K562	blood
30	chr3:52623400-52634200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:52623400-52634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:52623400-52634600	Weak transcription	Fetal Kidney	kidney
33	chr3:52623400-52635000	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:52623600-52632200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:52623600-52633000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:52623600-52634200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:52623600-52634800	Weak transcription	NHDF-Ad	bronchial
38	chr3:52623600-52635000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:52623800-52633600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:52626200-52634800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:52626400-52633400	Strong transcription	Fetal Thymus	thymus
42	chr3:52626400-52634000	Strong transcription	Fetal Brain Female	brain
43	chr3:52626600-52633200	Strong transcription	Fetal Muscle Leg	muscle
44	chr3:52626600-52633600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:52626600-52634400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr3:52626800-52634600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:52627400-52634600	Strong transcription	Placenta	Placenta
48	chr3:52627400-52634800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:52627600-52634200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:52627800-52633400	Strong transcription	Rectal Mucosa Donor 29	rectum

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