Variant report

Variant	rs12648430
Chromosome Location	chr4:151647448-151647449
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	chr4:151645255..151647741-chr4:151651102..151652616,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10003857	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10012460	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10025414	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap];0.84[YRI][hapmap]
rs10520078	0.92[GIH][hapmap]
rs10857250	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1148651	0.80[EUR][1000 genomes]
rs1148655	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11737590	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1201204	0.84[ASN][1000 genomes]
rs1201208	0.91[TSI][hapmap]
rs1201216	0.80[EUR][1000 genomes]
rs12499833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508892	0.94[GIH][hapmap];0.82[TSI][hapmap]
rs12645871	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13126388	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1451634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027030	1.00[CEU][hapmap]
rs17027034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17027100	0.92[AFR][1000 genomes]
rs17027155	0.87[EUR][1000 genomes]
rs1782360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs184150	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs186080	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1947314	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2122920	0.97[AFR][1000 genomes]
rs2198191	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198192	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2218899	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs294530	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs294532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs294533	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs294535	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4318628	0.89[GIH][hapmap]
rs4336207	0.80[GIH][hapmap]
rs4355367	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs4416458	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431210	1.00[CEU][hapmap]
rs4533751	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs4696220	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696537	1.00[CEU][hapmap]
rs4696630	0.98[ASN][1000 genomes]
rs4696632	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4696634	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57003564	0.87[EUR][1000 genomes]
rs61258128	0.95[AFR][1000 genomes]
rs62346265	0.99[AFR][1000 genomes]
rs62346295	0.96[AFR][1000 genomes]
rs62346301	0.98[AFR][1000 genomes]
rs62346303	1.00[AFR][1000 genomes]
rs62346304	0.94[AFR][1000 genomes]
rs62346305	0.96[AFR][1000 genomes]
rs62346307	0.97[AFR][1000 genomes]
rs62346308	0.95[AFR][1000 genomes]
rs62346309	0.95[AFR][1000 genomes]
rs62346311	0.98[AFR][1000 genomes]
rs62346337	0.82[AFR][1000 genomes]
rs62346338	0.90[AFR][1000 genomes]
rs62346341	0.93[AFR][1000 genomes]
rs62346345	0.92[AFR][1000 genomes]
rs62346346	0.80[AFR][1000 genomes]
rs62346349	0.85[AFR][1000 genomes]
rs6535749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535750	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6811016	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817726	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6820819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6831200	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6835367	0.87[GIH][hapmap]
rs6836017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6841158	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847725	1.00[CEU][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs6851019	0.93[ASN][1000 genomes]
rs6852035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6854740	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855472	0.89[EUR][1000 genomes]
rs73859222	0.95[AFR][1000 genomes]
rs7655761	0.98[ASN][1000 genomes]
rs7656796	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7663641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671635	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7677186	0.92[AFR][1000 genomes]
rs7682370	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698142	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971640	1.00[CEU][hapmap]
rs9884181	0.80[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151639600-151671400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:151640600-151652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:151643000-151647600	Strong transcription	Primary B cells from cord blood	blood
5	chr4:151643400-151647600	Strong transcription	Primary T cells from cord blood	blood
6	chr4:151643600-151654200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:151644200-151647600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:151644200-151650600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:151644200-151657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:151644400-151654400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:151644400-151660800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:151644400-151660800	Weak transcription	Aorta	Aorta
13	chr4:151644400-151663800	Weak transcription	HMEC	breast
14	chr4:151644600-151647600	Weak transcription	Ovary	ovary
15	chr4:151644600-151648200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:151644600-151664200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:151645000-151647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:151645000-151648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:151645000-151653600	Weak transcription	HepG2	liver
20	chr4:151645200-151647800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:151645200-151652000	Weak transcription	Lung	lung
22	chr4:151645200-151658200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:151645200-151665800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:151645200-151671000	Weak transcription	Left Ventricle	heart
25	chr4:151645400-151647600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:151645400-151647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:151645400-151647800	Weak transcription	Right Ventricle	heart
28	chr4:151645400-151648600	Weak transcription	Psoas Muscle	Psoas
29	chr4:151645400-151650200	Weak transcription	Gastric	stomach
30	chr4:151645400-151651600	Weak transcription	Fetal Stomach	stomach
31	chr4:151645400-151654200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:151645400-151695000	Weak transcription	Esophagus	oesophagus
33	chr4:151645600-151647600	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:151645600-151651200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:151645600-151651800	Weak transcription	Thymus	Thymus
36	chr4:151645600-151662600	Weak transcription	Pancreas	Pancrea
37	chr4:151645600-151669600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr4:151645600-151690400	Weak transcription	K562	blood
39	chr4:151645600-151749000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:151645800-151647600	Weak transcription	Fetal Intestine Small	intestine
41	chr4:151645800-151655800	Weak transcription	Fetal Thymus	thymus
42	chr4:151646000-151652200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:151646000-151658400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:151646400-151648200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr4:151646600-151648200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:151646600-151648600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:151646600-151649000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr4:151646600-151649400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:151646800-151648000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr4:151646800-151650000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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