Variant report

Variant	rs10000247
Chromosome Location	chr4:95173250-95173251
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10016806	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10024642	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10030586	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10034781	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10856908	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097406	0.81[ASN][1000 genomes]
rs11097407	0.81[ASN][1000 genomes]
rs11097408	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097411	0.86[ASN][1000 genomes]
rs11722476	0.84[ASN][1000 genomes]
rs11943926	0.82[ASN][1000 genomes]
rs12499309	0.85[ASN][1000 genomes]
rs12511433	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12643901	0.81[ASN][1000 genomes]
rs12645192	0.83[ASN][1000 genomes]
rs12646184	0.85[ASN][1000 genomes]
rs13108619	0.86[ASN][1000 genomes]
rs13111083	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112528	0.86[ASN][1000 genomes]
rs13132963	0.85[ASN][1000 genomes]
rs13135934	0.85[ASN][1000 genomes]
rs13142645	0.85[ASN][1000 genomes]
rs13434570	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13435702	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1565062	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17021463	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17310266	0.85[ASN][1000 genomes]
rs17310526	0.85[ASN][1000 genomes]
rs17376404	0.86[ASN][1000 genomes]
rs17376488	0.86[ASN][1000 genomes]
rs17623135	0.86[ASN][1000 genomes]
rs183993	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2087170	0.85[ASN][1000 genomes]
rs2129595	0.85[ASN][1000 genomes]
rs2171381	0.86[ASN][1000 genomes]
rs2276910	0.82[ASN][1000 genomes]
rs2632399	0.83[ASN][1000 genomes]
rs2632401	0.81[ASN][1000 genomes]
rs2632405	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2632410	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2632411	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2632417	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2664871	0.81[ASN][1000 genomes]
rs2664872	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664880	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664881	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664892	0.83[ASN][1000 genomes]
rs2664894	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs282447	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs282448	0.81[ASN][1000 genomes]
rs282449	0.81[ASN][1000 genomes]
rs282450	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2865345	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2865350	0.82[EUR][1000 genomes]
rs28701470	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2883	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2902979	0.88[ASN][1000 genomes]
rs3106135	0.81[ASN][1000 genomes]
rs3106136	0.83[ASN][1000 genomes]
rs3113862	0.81[ASN][1000 genomes]
rs3113863	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34145031	0.85[ASN][1000 genomes]
rs34711938	0.85[ASN][1000 genomes]
rs35361491	0.85[ASN][1000 genomes]
rs35670996	0.85[ASN][1000 genomes]
rs35995707	0.85[ASN][1000 genomes]
rs4235050	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4558832	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4693003	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4693004	0.85[ASN][1000 genomes]
rs4693375	0.82[ASN][1000 genomes]
rs4693377	0.82[ASN][1000 genomes]
rs4693378	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4693381	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61004493	0.85[ASN][1000 genomes]
rs61514245	0.85[ASN][1000 genomes]
rs6532476	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66581998	0.82[ASN][1000 genomes]
rs67552174	0.85[ASN][1000 genomes]
rs6823404	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840674	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6841121	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855358	0.83[EUR][1000 genomes]
rs72665608	0.81[ASN][1000 genomes]
rs72665658	0.81[ASN][1000 genomes]
rs7435106	0.85[ASN][1000 genomes]
rs7439869	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7442254	0.89[ASN][1000 genomes]
rs7654919	0.82[ASN][1000 genomes]
rs7657789	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7685121	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7697827	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8026	0.86[ASN][1000 genomes]
rs8336	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9307136	0.82[ASN][1000 genomes]
rs9884209	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9884431	0.83[EUR][1000 genomes];0.86[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:125 , 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	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
3	chr4:95130200-95194000	Weak transcription	Gastric	stomach
4	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
5	chr4:95131600-95198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:95136600-95174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:95138800-95214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:95145400-95175000	Strong transcription	Dnd41	blood
9	chr4:95146000-95214200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:95146200-95214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:95146200-95214400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:95146600-95175800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:95148200-95180800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:95151400-95214400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:95152200-95202000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:95152600-95174400	Weak transcription	Brain Angular Gyrus	brain
17	chr4:95154600-95175800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:95155000-95177400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:95155400-95175800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:95158200-95173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:95158200-95225800	Weak transcription	Stomach Mucosa	stomach
22	chr4:95161400-95175000	Strong transcription	HSMM	muscle
23	chr4:95161400-95207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:95162800-95192000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:95163000-95200200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:95163000-95210200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:95163600-95173400	Weak transcription	Small Intestine	intestine
28	chr4:95164400-95173400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:95164400-95202800	Weak transcription	Pancreas	Pancrea
30	chr4:95164600-95173800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:95164600-95174000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:95164600-95200200	Weak transcription	Lung	lung
33	chr4:95164600-95200200	Weak transcription	Spleen	Spleen
34	chr4:95164800-95174200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:95165000-95174000	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:95165000-95194200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:95165000-95198000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:95165200-95174000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr4:95165400-95174000	Weak transcription	Brain Anterior Caudate	brain
40	chr4:95165400-95174000	Weak transcription	Brain Germinal Matrix	brain
41	chr4:95165400-95200000	Weak transcription	Fetal Brain Male	brain
42	chr4:95165400-95202800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:95165800-95173800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:95165800-95174000	Weak transcription	Fetal Intestine Large	intestine
45	chr4:95166400-95183200	Weak transcription	Hela-S3	cervix
46	chr4:95166600-95173400	Weak transcription	K562	blood
47	chr4:95166600-95174000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:95167600-95200200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:95167800-95173800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr4:95167800-95181400	Weak transcription	Fetal Intestine Small	intestine

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