Variant report

Variant	rs4690780
Chromosome Location	chr4:144123567-144123568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144113102..144114943-chr4:144122155..144123861,2	K562	blood:
2	chr4:144105285..144107723-chr4:144122108..144124835,2	K562	blood:
3	chr4:144111250..144113002-chr4:144122579..144124112,2	K562	blood:
4	chr4:144118395..144121730-chr4:144122665..144125432,3	K562	blood:

Variant related genes	Relation type
ENSG00000250326	Chromatin interaction
ENSG00000170185	Chromatin interaction

Extended variants
information (count: 184 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10000911	0.88[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10001113	0.93[ASN][1000 genomes]
rs10002867	0.93[ASN][1000 genomes]
rs10002888	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10003529	0.82[ASN][1000 genomes]
rs10004364	0.84[ASN][1000 genomes]
rs10004598	0.85[ASN][1000 genomes]
rs10009906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010367	0.93[ASN][1000 genomes]
rs10011709	0.90[ASN][1000 genomes]
rs10012434	0.90[ASN][1000 genomes]
rs10015190	0.90[ASN][1000 genomes]
rs10015279	0.81[ASN][1000 genomes]
rs10015751	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10019249	0.90[ASN][1000 genomes]
rs10026015	0.93[ASN][1000 genomes]
rs10028434	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10029373	0.93[ASN][1000 genomes]
rs10031363	0.91[ASN][1000 genomes]
rs10033104	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10034769	0.85[ASN][1000 genomes]
rs10155434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1039762	0.93[ASN][1000 genomes]
rs1039763	0.93[ASN][1000 genomes]
rs10434185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519678	0.92[ASN][1000 genomes]
rs10857405	0.85[ASN][1000 genomes]
rs11100770	0.85[ASN][1000 genomes]
rs11100771	0.85[ASN][1000 genomes]
rs11100772	0.82[ASN][1000 genomes]
rs11100778	0.89[ASN][1000 genomes]
rs11100779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100780	0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11100781	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100782	0.92[ASN][1000 genomes]
rs11100783	0.93[ASN][1000 genomes]
rs11724872	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11725565	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11727441	0.93[ASN][1000 genomes]
rs11728962	0.87[ASN][1000 genomes]
rs11732484	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737209	0.93[ASN][1000 genomes]
rs11933603	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11940580	0.93[ASN][1000 genomes]
rs11947142	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499485	0.92[ASN][1000 genomes]
rs12501994	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12505142	0.92[ASN][1000 genomes]
rs12506120	0.86[ASN][1000 genomes]
rs12640698	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102238	0.84[ASN][1000 genomes]
rs13106497	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs13113047	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114280	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13116414	0.92[ASN][1000 genomes]
rs13116507	0.86[ASN][1000 genomes]
rs13118943	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13119330	0.92[ASN][1000 genomes]
rs13128884	0.93[ASN][1000 genomes]
rs13137565	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139457	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs13140643	0.85[ASN][1000 genomes]
rs13151561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440410	0.92[ASN][1000 genomes]
rs1440411	0.93[ASN][1000 genomes]
rs1440412	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1440414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440416	0.93[ASN][1000 genomes]
rs1440418	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440419	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470130	0.93[ASN][1000 genomes]
rs1605581	0.93[ASN][1000 genomes]
rs2010767	0.92[ASN][1000 genomes]
rs2119269	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2165301	0.92[ASN][1000 genomes]
rs2165302	0.93[ASN][1000 genomes]
rs2323076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2323077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28470858	0.92[ASN][1000 genomes]
rs28592151	0.90[ASN][1000 genomes]
rs28649839	0.93[ASN][1000 genomes]
rs300921	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300924	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300925	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300927	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300929	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300934	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300938	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300939	0.93[ASN][1000 genomes]
rs300940	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300941	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300951	0.86[CHB][hapmap]
rs34168479	0.93[ASN][1000 genomes]
rs34342939	0.92[ASN][1000 genomes]
rs34664017	0.90[ASN][1000 genomes]
rs3910622	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4131029	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4132266	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4234886	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4234887	0.92[ASN][1000 genomes]
rs4285045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290853	0.92[ASN][1000 genomes]
rs4318600	0.85[ASN][1000 genomes]
rs4323054	0.85[ASN][1000 genomes]
rs4323055	0.85[ASN][1000 genomes]
rs4333135	0.86[ASN][1000 genomes]
rs4336176	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4407450	0.92[ASN][1000 genomes]
rs4413361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502634	0.85[ASN][1000 genomes]
rs4511955	0.88[ASN][1000 genomes]
rs4513514	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4561881	0.86[ASN][1000 genomes]
rs4566607	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4574353	0.92[ASN][1000 genomes]
rs4579067	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4582112	0.93[ASN][1000 genomes]
rs4626148	0.85[ASN][1000 genomes]
rs4637346	0.93[ASN][1000 genomes]
rs4690715	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4690771	0.85[ASN][1000 genomes]
rs4690775	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4690777	0.92[ASN][1000 genomes]
rs4690778	0.88[ASN][1000 genomes]
rs4690779	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4690781	0.92[ASN][1000 genomes]
rs4690783	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs534750	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57168887	0.92[ASN][1000 genomes]
rs587254	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632359	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537150	0.85[ASN][1000 genomes]
rs6537151	0.85[ASN][1000 genomes]
rs6812522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6816223	0.87[ASN][1000 genomes]
rs6818149	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6820340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6820538	0.93[ASN][1000 genomes]
rs6822299	0.92[ASN][1000 genomes]
rs6826771	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827229	0.93[ASN][1000 genomes]
rs6828369	0.92[ASN][1000 genomes]
rs6829621	0.85[ASN][1000 genomes]
rs6832943	0.92[ASN][1000 genomes]
rs6833582	0.92[ASN][1000 genomes]
rs6837133	0.81[ASN][1000 genomes]
rs6839312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848475	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854861	0.85[ASN][1000 genomes]
rs6856785	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719159	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719160	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719163	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719173	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72719179	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72719180	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7435424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436840	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs763918	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7656276	0.90[ASN][1000 genomes]
rs7670439	0.90[ASN][1000 genomes]
rs7673827	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675127	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7680365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7685075	0.85[ASN][1000 genomes]
rs7685461	0.85[ASN][1000 genomes]
rs7687417	0.90[ASN][1000 genomes]
rs7692813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7693583	0.85[ASN][1000 genomes]
rs7693817	0.85[ASN][1000 genomes]
rs9308169	0.92[ASN][1000 genomes]
rs9631769	0.85[ASN][1000 genomes]
rs9685571	0.86[ASN][1000 genomes]
rs9790396	0.85[ASN][1000 genomes]
rs9790822	0.85[ASN][1000 genomes]
rs985619	0.92[ASN][1000 genomes]
rs9992676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996072	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998017	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr4:144107400-144137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:144108200-144128200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144108600-144129200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:144109200-144123800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:144109200-144142800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:144109800-144138200	Strong transcription	Fetal Thymus	thymus
7	chr4:144110000-144126200	Weak transcription	Fetal Heart	heart
8	chr4:144110000-144128200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:144110000-144128400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:144110200-144136600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:144110200-144138000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:144110200-144145600	Weak transcription	Stomach Mucosa	stomach
13	chr4:144110400-144123600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:144110800-144127600	Strong transcription	HSMM	muscle
15	chr4:144110800-144133000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:144110800-144137400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:144111200-144123600	Strong transcription	Fetal Intestine Large	intestine
18	chr4:144111200-144128400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:144111400-144123600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:144111400-144123600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:144111400-144128400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:144111400-144128600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:144111400-144131400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:144111400-144137400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:144111600-144123600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:144111600-144128400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr4:144111800-144136200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:144112400-144128200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:144113000-144137400	Strong transcription	Dnd41	blood
30	chr4:144114600-144137400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:144114800-144136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:144116000-144128200	Strong transcription	Placenta	Placenta
33	chr4:144116000-144129000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr4:144116200-144129600	Strong transcription	Primary B cells from cord blood	blood
35	chr4:144116600-144123600	Strong transcription	Adipose Nuclei	Adipose
36	chr4:144116600-144126800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:144116600-144127800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:144118200-144125800	Weak transcription	NHEK	skin
39	chr4:144118400-144125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:144118400-144125200	Weak transcription	Fetal Intestine Small	intestine
41	chr4:144118400-144125200	Weak transcription	Fetal Stomach	stomach
42	chr4:144118400-144134800	Weak transcription	Gastric	stomach
43	chr4:144118400-144142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:144118400-144142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:144118400-144143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:144118400-144150000	Weak transcription	Aorta	Aorta
47	chr4:144118600-144129000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:144118800-144135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr4:144118800-144136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:144119200-144136200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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