Variant report

Variant	rs12511433
Chromosome Location	chr4:95162425-95162426
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	chr4:95138512..95140147-chr4:95160968..95162982,2	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10000247	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10008044	0.91[ASN][1000 genomes]
rs10016806	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018905	0.84[AFR][1000 genomes]
rs10023115	0.91[ASN][1000 genomes]
rs10024642	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028613	0.89[EUR][1000 genomes]
rs10030586	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10034781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10516947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10516950	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10856908	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10856909	0.89[JPT][hapmap]
rs11097406	0.95[ASN][1000 genomes]
rs11097407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11097408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097411	0.99[ASN][1000 genomes]
rs11097413	0.84[ASN][1000 genomes]
rs11097417	0.89[JPT][hapmap]
rs11722476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11727030	0.89[JPT][hapmap]
rs11943926	0.95[ASN][1000 genomes]
rs12499309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12501138	0.90[ASN][1000 genomes]
rs12505596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12510326	0.83[ASN][1000 genomes]
rs12513267	0.93[ASN][1000 genomes]
rs12643901	0.95[ASN][1000 genomes]
rs12645192	0.96[ASN][1000 genomes]
rs12646184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13108619	0.84[ASN][1000 genomes]
rs13111083	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112528	1.00[ASN][1000 genomes]
rs13132963	0.97[ASN][1000 genomes]
rs13135934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13138688	0.81[ASN][1000 genomes]
rs13142645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13434570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435702	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021463	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17302300	0.91[ASN][1000 genomes]
rs17309887	0.80[CEU][hapmap]
rs17310266	0.98[ASN][1000 genomes]
rs17310526	0.97[ASN][1000 genomes]
rs17374832	0.93[ASN][1000 genomes]
rs17376404	0.99[ASN][1000 genomes]
rs17376488	0.99[ASN][1000 genomes]
rs17623135	0.98[ASN][1000 genomes]
rs183993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1876917	0.90[ASN][1000 genomes]
rs1876918	0.91[ASN][1000 genomes]
rs1991316	0.89[JPT][hapmap]
rs2016476	0.88[ASN][1000 genomes]
rs2016483	0.89[ASN][1000 genomes]
rs2059605	0.88[ASN][1000 genomes]
rs2087170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2129595	0.97[ASN][1000 genomes]
rs2171381	0.99[ASN][1000 genomes]
rs2171384	0.93[ASN][1000 genomes]
rs2276910	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289186	0.86[ASN][1000 genomes]
rs2632399	0.96[ASN][1000 genomes]
rs2632401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2632405	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2632410	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2632411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2632412	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2632417	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2664871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2664872	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664880	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664881	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2664894	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs282447	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs282448	0.91[ASN][1000 genomes]
rs282449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs282450	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28403447	0.87[ASN][1000 genomes]
rs28408270	0.91[ASN][1000 genomes]
rs28469860	0.88[ASN][1000 genomes]
rs2865343	0.93[ASN][1000 genomes]
rs2865344	0.93[ASN][1000 genomes]
rs2865345	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2865350	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2865352	0.84[ASN][1000 genomes]
rs28696050	0.93[ASN][1000 genomes]
rs28701470	0.80[EUR][1000 genomes]
rs28815470	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2883	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28838299	0.80[ASN][1000 genomes]
rs2902979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3106133	0.88[ASN][1000 genomes]
rs3106134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3106135	0.95[ASN][1000 genomes]
rs3106136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3113862	0.95[ASN][1000 genomes]
rs3113863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34145031	0.98[ASN][1000 genomes]
rs34383543	0.92[ASN][1000 genomes]
rs34396894	0.91[ASN][1000 genomes]
rs34465979	0.88[ASN][1000 genomes]
rs34711938	0.97[ASN][1000 genomes]
rs35361491	0.98[ASN][1000 genomes]
rs35670996	0.98[ASN][1000 genomes]
rs35995707	0.98[ASN][1000 genomes]
rs4235050	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4438731	0.91[ASN][1000 genomes]
rs4558832	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4560373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4692999	0.87[ASN][1000 genomes]
rs4693000	0.87[ASN][1000 genomes]
rs4693003	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693004	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4693375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4693376	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4693377	0.96[ASN][1000 genomes]
rs4693378	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693381	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56197713	0.86[ASN][1000 genomes]
rs60428594	0.91[ASN][1000 genomes]
rs61004493	0.98[ASN][1000 genomes]
rs61069704	0.90[ASN][1000 genomes]
rs61514245	0.98[ASN][1000 genomes]
rs62320439	0.84[ASN][1000 genomes]
rs6532469	0.92[ASN][1000 genomes]
rs6532472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6532476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66581998	0.96[ASN][1000 genomes]
rs67552174	0.95[ASN][1000 genomes]
rs6817795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6821438	0.91[ASN][1000 genomes]
rs6821638	0.90[ASN][1000 genomes]
rs6823404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840674	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6841121	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6855358	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6857967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6858265	0.91[ASN][1000 genomes]
rs6858342	0.93[ASN][1000 genomes]
rs722486	0.91[ASN][1000 genomes]
rs72665608	0.89[ASN][1000 genomes]
rs72665629	0.93[ASN][1000 genomes]
rs72665658	0.95[ASN][1000 genomes]
rs7435106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7437089	0.84[ASN][1000 genomes]
rs7438414	0.89[JPT][hapmap]
rs7439869	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442254	0.94[ASN][1000 genomes]
rs7654565	0.93[ASN][1000 genomes]
rs7654919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7657789	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669168	0.93[ASN][1000 genomes]
rs767657	0.88[ASN][1000 genomes]
rs7676797	0.82[AFR][1000 genomes]
rs7678054	0.90[ASN][1000 genomes]
rs7680953	0.85[ASN][1000 genomes]
rs7685121	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697827	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026	1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs8336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901615	0.88[ASN][1000 genomes]
rs9307136	0.95[ASN][1000 genomes]
rs9307137	0.93[ASN][1000 genomes]
rs9884209	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884431	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv1850963	chr4:95146281-95175682	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95130000-95176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:95130200-95162600	Weak transcription	Pancreas	Pancrea
3	chr4:95130200-95162600	Weak transcription	Small Intestine	intestine
4	chr4:95130200-95164000	Weak transcription	Spleen	Spleen
5	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
6	chr4:95130200-95194000	Weak transcription	Gastric	stomach
7	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
8	chr4:95131200-95164400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:95131800-95169200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:95134800-95162800	Weak transcription	Hela-S3	cervix
12	chr4:95135200-95162600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:95135200-95162800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:95136600-95164800	Weak transcription	Fetal Brain Male	brain
15	chr4:95136600-95174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:95136800-95162600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:95137400-95162600	Weak transcription	Thymus	Thymus
18	chr4:95137400-95162800	Weak transcription	Psoas Muscle	Psoas
19	chr4:95137600-95162600	Weak transcription	Aorta	Aorta
20	chr4:95138400-95164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:95138800-95214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:95140200-95167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:95141000-95164400	Weak transcription	A549	lung
24	chr4:95142200-95164200	Weak transcription	NHLF	lung
25	chr4:95145400-95175000	Strong transcription	Dnd41	blood
26	chr4:95146000-95214200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:95146200-95214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:95146200-95214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:95146600-95175800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:95147800-95168400	Strong transcription	Fetal Thymus	thymus
31	chr4:95148000-95169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:95148200-95180800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:95148400-95162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:95148400-95162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:95148800-95162600	Weak transcription	Lung	lung
36	chr4:95148800-95164200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:95148800-95167000	Weak transcription	Esophagus	oesophagus
38	chr4:95150000-95162600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:95150800-95162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:95151400-95214400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:95151600-95170400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr4:95152000-95162600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:95152200-95163600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:95152200-95202000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:95152400-95162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:95152400-95164400	Weak transcription	Brain Substantia Nigra	brain
47	chr4:95152600-95174400	Weak transcription	Brain Angular Gyrus	brain
48	chr4:95153000-95169800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:95154200-95162600	Weak transcription	Fetal Stomach	stomach
50	chr4:95154200-95164000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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