Variant report

Variant	rs2632417
Chromosome Location	chr4:95137542-95137543
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	chr4:95137064..95139019-chr4:95140707..95144811,4	K562	blood:
2	chr4:95136830..95141746-chr4:95150101..95153393,4	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10000247	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10008044	0.96[ASN][1000 genomes]
rs10016806	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10023115	0.96[ASN][1000 genomes]
rs10024642	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10028613	0.83[EUR][1000 genomes]
rs10030586	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10034781	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10433970	0.98[ASN][1000 genomes]
rs10516947	0.98[ASN][1000 genomes]
rs10516950	0.83[ASN][1000 genomes]
rs10856908	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097406	0.96[ASN][1000 genomes]
rs11097407	0.96[ASN][1000 genomes]
rs11097408	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097411	0.94[ASN][1000 genomes]
rs11722476	0.86[ASN][1000 genomes]
rs11943926	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12499309	0.93[ASN][1000 genomes]
rs12501138	0.95[ASN][1000 genomes]
rs12505596	0.98[ASN][1000 genomes]
rs12510326	0.88[ASN][1000 genomes]
rs12511433	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12513267	0.98[ASN][1000 genomes]
rs12643901	0.96[ASN][1000 genomes]
rs12645192	0.91[ASN][1000 genomes]
rs12646184	0.93[ASN][1000 genomes]
rs13108619	0.81[ASN][1000 genomes]
rs13111083	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13112528	0.95[ASN][1000 genomes]
rs13132963	0.92[ASN][1000 genomes]
rs13135934	0.93[ASN][1000 genomes]
rs13142645	0.93[ASN][1000 genomes]
rs13434570	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13435702	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1565062	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17021463	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17302300	0.96[ASN][1000 genomes]
rs17310266	0.93[ASN][1000 genomes]
rs17310526	0.92[ASN][1000 genomes]
rs17374832	0.98[ASN][1000 genomes]
rs17376404	0.94[ASN][1000 genomes]
rs17376488	0.94[ASN][1000 genomes]
rs17623135	0.93[ASN][1000 genomes]
rs1828324	0.83[ASN][1000 genomes]
rs183993	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876917	0.95[ASN][1000 genomes]
rs1876918	0.96[ASN][1000 genomes]
rs2016476	0.83[ASN][1000 genomes]
rs2016483	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2059605	0.83[ASN][1000 genomes]
rs2087170	0.93[ASN][1000 genomes]
rs2129595	0.92[ASN][1000 genomes]
rs2171381	0.94[ASN][1000 genomes]
rs2171384	0.98[ASN][1000 genomes]
rs2276910	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289186	0.81[ASN][1000 genomes]
rs2632399	0.95[ASN][1000 genomes]
rs2632401	0.96[ASN][1000 genomes]
rs2632405	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632411	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2632412	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2664871	0.96[ASN][1000 genomes]
rs2664872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664881	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664892	0.95[ASN][1000 genomes]
rs2664894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs282447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs282448	0.93[ASN][1000 genomes]
rs282449	0.96[ASN][1000 genomes]
rs282450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28403447	0.82[ASN][1000 genomes]
rs28408270	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28469860	0.93[ASN][1000 genomes]
rs2865343	0.98[ASN][1000 genomes]
rs2865344	0.98[ASN][1000 genomes]
rs2865345	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2865350	0.85[EUR][1000 genomes]
rs28696050	0.98[ASN][1000 genomes]
rs28815470	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2902979	0.87[ASN][1000 genomes]
rs3106133	0.93[ASN][1000 genomes]
rs3106134	0.95[ASN][1000 genomes]
rs3106135	0.96[ASN][1000 genomes]
rs3106136	0.95[ASN][1000 genomes]
rs3113862	0.96[ASN][1000 genomes]
rs3113863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34145031	0.93[ASN][1000 genomes]
rs34383543	0.87[ASN][1000 genomes]
rs34396894	0.96[ASN][1000 genomes]
rs34465979	0.83[ASN][1000 genomes]
rs34711938	0.92[ASN][1000 genomes]
rs35361491	0.93[ASN][1000 genomes]
rs35670996	0.93[ASN][1000 genomes]
rs35995707	0.93[ASN][1000 genomes]
rs4235050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4438731	0.96[ASN][1000 genomes]
rs4558832	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560373	0.98[ASN][1000 genomes]
rs4692999	0.92[ASN][1000 genomes]
rs4693000	0.92[ASN][1000 genomes]
rs4693003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693004	0.93[ASN][1000 genomes]
rs4693375	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4693377	0.94[ASN][1000 genomes]
rs4693378	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4693381	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56197713	0.91[ASN][1000 genomes]
rs60428594	0.96[ASN][1000 genomes]
rs61004493	0.93[ASN][1000 genomes]
rs61069704	0.95[ASN][1000 genomes]
rs61514245	0.93[ASN][1000 genomes]
rs6532469	0.97[ASN][1000 genomes]
rs6532472	0.98[ASN][1000 genomes]
rs6532476	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66581998	0.90[ASN][1000 genomes]
rs67552174	0.90[ASN][1000 genomes]
rs6817795	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6821438	0.96[ASN][1000 genomes]
rs6821638	0.96[ASN][1000 genomes]
rs6823404	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6840674	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6841121	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6855358	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6857967	0.98[ASN][1000 genomes]
rs6858265	0.96[ASN][1000 genomes]
rs6858342	0.98[ASN][1000 genomes]
rs722486	0.96[ASN][1000 genomes]
rs72665608	0.94[ASN][1000 genomes]
rs72665629	0.98[ASN][1000 genomes]
rs72665658	0.96[ASN][1000 genomes]
rs7435106	0.93[ASN][1000 genomes]
rs7437089	0.89[ASN][1000 genomes]
rs7439869	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7442254	0.89[ASN][1000 genomes]
rs7654565	0.98[ASN][1000 genomes]
rs7654919	1.00[ASN][1000 genomes]
rs7657789	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7669168	0.98[ASN][1000 genomes]
rs767657	0.83[ASN][1000 genomes]
rs7678054	0.95[ASN][1000 genomes]
rs7680953	0.90[ASN][1000 genomes]
rs7685121	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697827	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8026	0.93[ASN][1000 genomes]
rs8336	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs901615	0.83[ASN][1000 genomes]
rs9307136	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9307137	0.98[ASN][1000 genomes]
rs9884209	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9884431	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95129800-95139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:95129800-95161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:95130000-95137600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr4:95130000-95141600	Weak transcription	Esophagus	oesophagus
5	chr4:95130000-95148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:95130000-95176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:95130200-95138400	Strong transcription	Fetal Thymus	thymus
8	chr4:95130200-95162600	Weak transcription	Pancreas	Pancrea
9	chr4:95130200-95162600	Weak transcription	Small Intestine	intestine
10	chr4:95130200-95164000	Weak transcription	Spleen	Spleen
11	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
12	chr4:95130200-95194000	Weak transcription	Gastric	stomach
13	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
14	chr4:95130400-95152000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:95130600-95143200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:95130600-95151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:95131000-95138000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:95131000-95138000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:95131000-95138600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:95131200-95138000	Strong transcription	HSMM	muscle
21	chr4:95131200-95138600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:95131200-95143800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:95131200-95164400	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:95131400-95138000	Strong transcription	Osteobl	bone
25	chr4:95131400-95142000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:95131400-95143600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:95131400-95143800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:95131400-95143800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:95131600-95137800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr4:95131600-95137800	Strong transcription	Liver	Liver
31	chr4:95131600-95138400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:95131600-95138400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr4:95131600-95143000	Weak transcription	Fetal Heart	heart
34	chr4:95131600-95143800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:95131600-95148600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:95131600-95157200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:95131800-95137600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:95131800-95137800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:95131800-95138200	Strong transcription	Primary T cells from cord blood	blood
41	chr4:95131800-95138200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:95131800-95143000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:95131800-95161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:95131800-95169200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:95132000-95138400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:95132000-95142600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:95132000-95143800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:95132200-95137800	Strong transcription	NH-A	brain
49	chr4:95132200-95138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:95132200-95140400	Strong transcription	Adipose Nuclei	Adipose

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