Variant report

Variant	rs3113863
Chromosome Location	chr4:95147827-95147828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95127424..95132801-chr4:95147153..95153356,7	K562	blood:

Variant related genes	Relation type
ENSG00000163104	Chromatin interaction
ENSG00000246541	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10000247	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10008044	0.95[ASN][1000 genomes]
rs10016806	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10023115	0.95[ASN][1000 genomes]
rs10024642	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028613	0.85[EUR][1000 genomes]
rs10030586	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10433970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10516947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs10516950	0.84[ASN][1000 genomes]
rs10856908	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10856909	0.89[JPT][hapmap]
rs11097406	0.98[ASN][1000 genomes]
rs11097407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11097408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097411	0.96[ASN][1000 genomes]
rs11097413	0.80[ASN][1000 genomes]
rs11097417	0.89[JPT][hapmap]
rs11722476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11727030	0.89[JPT][hapmap]
rs11943926	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12499309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12501138	0.93[ASN][1000 genomes]
rs12505596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[ASN][1000 genomes]
rs12510326	0.86[ASN][1000 genomes]
rs12511433	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]
rs12513267	0.96[ASN][1000 genomes]
rs12643901	0.98[ASN][1000 genomes]
rs12645192	0.93[ASN][1000 genomes]
rs12646184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13108619	0.83[ASN][1000 genomes]
rs13111083	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13112528	0.96[ASN][1000 genomes]
rs13132963	0.94[ASN][1000 genomes]
rs13135934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13142645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13434570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13435702	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1565062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17021463	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17302300	0.95[ASN][1000 genomes]
rs17309887	0.80[CEU][hapmap]
rs17310266	0.95[ASN][1000 genomes]
rs17310526	0.94[ASN][1000 genomes]
rs17374832	0.96[ASN][1000 genomes]
rs17376404	0.96[ASN][1000 genomes]
rs17376488	0.96[ASN][1000 genomes]
rs17623135	0.95[ASN][1000 genomes]
rs1828324	0.82[ASN][1000 genomes]
rs183993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1876917	0.93[ASN][1000 genomes]
rs1876918	0.95[ASN][1000 genomes]
rs1991316	0.89[JPT][hapmap]
rs2016476	0.84[ASN][1000 genomes]
rs2016483	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2059605	0.84[ASN][1000 genomes]
rs2087170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2129595	0.94[ASN][1000 genomes]
rs2171381	0.96[ASN][1000 genomes]
rs2171384	0.96[ASN][1000 genomes]
rs2276910	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289186	0.83[ASN][1000 genomes]
rs2632399	0.96[ASN][1000 genomes]
rs2632401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2632405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2632410	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2632411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2632412	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2632417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2664872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664880	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2664894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs282447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs282448	0.95[ASN][1000 genomes]
rs282449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs282450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28403447	0.83[ASN][1000 genomes]
rs28408270	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28469860	0.91[ASN][1000 genomes]
rs2865343	0.96[ASN][1000 genomes]
rs2865344	0.96[ASN][1000 genomes]
rs2865345	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2865350	0.88[EUR][1000 genomes]
rs2865352	0.81[ASN][1000 genomes]
rs28696050	0.96[ASN][1000 genomes]
rs28815470	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2883	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2902979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3106133	0.91[ASN][1000 genomes]
rs3106134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3106135	0.98[ASN][1000 genomes]
rs3106136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3113862	0.98[ASN][1000 genomes]
rs34145031	0.95[ASN][1000 genomes]
rs34383543	0.89[ASN][1000 genomes]
rs34396894	0.95[ASN][1000 genomes]
rs34465979	0.84[ASN][1000 genomes]
rs34711938	0.94[ASN][1000 genomes]
rs35361491	0.95[ASN][1000 genomes]
rs35670996	0.95[ASN][1000 genomes]
rs35995707	0.95[ASN][1000 genomes]
rs4235050	0.96[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4438731	0.95[ASN][1000 genomes]
rs4558832	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4560373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs4692999	0.91[ASN][1000 genomes]
rs4693000	0.90[ASN][1000 genomes]
rs4693003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693004	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4693375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4693376	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4693377	0.96[ASN][1000 genomes]
rs4693378	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693381	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56197713	0.90[ASN][1000 genomes]
rs60428594	0.95[ASN][1000 genomes]
rs61004493	0.95[ASN][1000 genomes]
rs61069704	0.93[ASN][1000 genomes]
rs61514245	0.95[ASN][1000 genomes]
rs62320439	0.80[ASN][1000 genomes]
rs6532469	0.96[ASN][1000 genomes]
rs6532472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[ASN][1000 genomes]
rs6532476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66581998	0.92[ASN][1000 genomes]
rs67552174	0.91[ASN][1000 genomes]
rs6817795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6821438	0.95[ASN][1000 genomes]
rs6821638	0.94[ASN][1000 genomes]
rs6823404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6840674	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6841121	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6855358	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6857967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs6858265	0.95[ASN][1000 genomes]
rs6858342	0.96[ASN][1000 genomes]
rs722486	0.95[ASN][1000 genomes]
rs72665608	0.92[ASN][1000 genomes]
rs72665629	0.96[ASN][1000 genomes]
rs72665658	0.98[ASN][1000 genomes]
rs7435106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7437089	0.88[ASN][1000 genomes]
rs7438414	0.89[JPT][hapmap]
rs7439869	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7442254	0.91[ASN][1000 genomes]
rs7654565	0.96[ASN][1000 genomes]
rs7654919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7657789	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7669168	0.96[ASN][1000 genomes]
rs767657	0.84[ASN][1000 genomes]
rs7678054	0.93[ASN][1000 genomes]
rs7680953	0.88[ASN][1000 genomes]
rs7685121	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7697827	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs8336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901615	0.84[ASN][1000 genomes]
rs9307136	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9307137	0.96[ASN][1000 genomes]
rs9884209	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9884431	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95129800-95161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:95130000-95148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:95130000-95176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:95130200-95162600	Weak transcription	Pancreas	Pancrea
5	chr4:95130200-95162600	Weak transcription	Small Intestine	intestine
6	chr4:95130200-95164000	Weak transcription	Spleen	Spleen
7	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
8	chr4:95130200-95194000	Weak transcription	Gastric	stomach
9	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
10	chr4:95130400-95152000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:95130600-95151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:95131200-95164400	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:95131600-95148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:95131600-95157200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:95131800-95161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:95131800-95169200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:95133600-95148000	Weak transcription	Lung	lung
19	chr4:95134800-95162400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:95134800-95162800	Weak transcription	Hela-S3	cervix
21	chr4:95135200-95148000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:95135200-95162600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:95135200-95162800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:95135800-95160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:95136400-95148400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:95136400-95157600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:95136600-95164800	Weak transcription	Fetal Brain Male	brain
28	chr4:95136600-95174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:95136800-95162600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:95137200-95148000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:95137400-95148000	Weak transcription	Left Ventricle	heart
32	chr4:95137400-95150600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:95137400-95162400	Weak transcription	Ovary	ovary
34	chr4:95137400-95162600	Weak transcription	Thymus	Thymus
35	chr4:95137400-95162800	Weak transcription	Psoas Muscle	Psoas
36	chr4:95137600-95162600	Weak transcription	Aorta	Aorta
37	chr4:95138000-95161400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:95138200-95148000	Weak transcription	Brain Germinal Matrix	brain
39	chr4:95138200-95162400	Weak transcription	HSMMtube	muscle
40	chr4:95138400-95164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:95138600-95148600	Weak transcription	Fetal Kidney	kidney
42	chr4:95138800-95161600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:95138800-95214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:95139200-95149600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:95140200-95167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:95141000-95151800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr4:95141000-95151800	Weak transcription	Brain Substantia Nigra	brain
48	chr4:95141000-95164400	Weak transcription	A549	lung
49	chr4:95141200-95157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:95141600-95162200	Weak transcription	Fetal Brain Female	brain

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