Variant report

Variant	rs4932939
Chromosome Location	chr19:24230785-24230786
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	chr19:24220010..24221718-chr19:24229974..24232920,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10402196	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10402551	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10403038	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10403647	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10405144	0.81[AFR][1000 genomes]
rs10405278	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10407092	0.82[JPT][hapmap]
rs10412649	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10413875	0.88[CEU][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10415748	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10416640	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10418094	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10422953	1.00[CHB][hapmap]
rs12611425	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1433128	0.83[AMR][1000 genomes]
rs41402552	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4932742	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4932944	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61311859	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511682	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6511686	0.83[AMR][1000 genomes]
rs66670702	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs67757841	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7247209	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7248311	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255819	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7257502	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7409260	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7507208	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8101775	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8102401	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8102429	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8113245	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8113462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9305014	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529080	chr19:23624528-24311535	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1063538	chr19:23671507-24561180	Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1065058	chr19:23724151-24503722	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv993561	chr19:23731992-24378493	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv524183	chr19:23742358-24490299	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv533257	chr19:23812263-24366074	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1063173	chr19:23821984-24521623	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1056903	chr19:23827708-24503722	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1066151	chr19:23830504-24561180	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv916400	chr19:23848713-24378493	Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv498117	chr19:23868453-24376393	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv911472	chr19:23896204-24601680	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv911473	chr19:23901285-24545366	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv1061681	chr19:23912494-24507160	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv1058987	chr19:23913386-24503722	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv543968	chr19:23913386-24503722	Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1061954	chr19:23928142-24358439	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv543969	chr19:23928142-24358439	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv3319026	chr19:23955132-24242554	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	esv3319027	chr19:23955132-24242554	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	esv3371774	chr19:23956564-24238888	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	nsv911475	chr19:23957937-24545366	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
23	esv3514268	chr19:23983125-24280811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
24	esv3514269	chr19:23983125-24280811	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
25	nsv579077	chr19:24084419-24490299	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
26	nsv1059114	chr19:24096441-24324826	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
27	esv3349957	chr19:24127944-24326368	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
28	nsv1064777	chr19:24133014-24358439	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
29	nsv543970	chr19:24133014-24358439	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
30	nsv1057291	chr19:24158049-24282798	Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
31	nsv833791	chr19:24160863-24293337	Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
32	nsv579078	chr19:24209547-24631604	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
33	nsv911477	chr19:24217064-24545366	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
34	nsv432043	chr19:24222128-24503985	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
35	nsv1062848	chr19:24230355-24248611	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 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	chr19:24217400-24257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:24217600-24230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:24217600-24258400	Weak transcription	Psoas Muscle	Psoas
4	chr19:24218200-24231000	Weak transcription	HMEC	breast
5	chr19:24218400-24230800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:24218800-24231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:24218800-24232400	Weak transcription	Stomach Mucosa	stomach
8	chr19:24220000-24232200	Weak transcription	K562	blood
9	chr19:24220000-24256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:24220200-24230800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:24220200-24231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:24221200-24244600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:24221800-24231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:24222000-24231000	Weak transcription	HepG2	liver
15	chr19:24222000-24231400	Weak transcription	Fetal Brain Male	brain
16	chr19:24222000-24234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:24222200-24230800	Weak transcription	Esophagus	oesophagus
18	chr19:24222600-24233200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:24223000-24230800	Weak transcription	NHLF	lung
20	chr19:24223200-24231000	Weak transcription	Small Intestine	intestine
21	chr19:24223600-24230800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:24223600-24232200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:24223800-24233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:24223800-24243400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:24224000-24231400	Weak transcription	Primary B cells from cord blood	blood
26	chr19:24224800-24235400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:24224800-24244600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:24225000-24244400	Strong transcription	Thymus	Thymus
29	chr19:24225000-24245400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:24225000-24252000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:24225000-24257600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:24225200-24236600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:24225200-24244200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:24225200-24244600	Strong transcription	Fetal Stomach	stomach
35	chr19:24225200-24251800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:24225400-24236400	Strong transcription	Fetal Intestine Large	intestine
37	chr19:24225400-24237400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:24225400-24239400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:24225400-24244200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr19:24225400-24244200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:24225400-24244400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:24225400-24244400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:24225400-24244600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:24225400-24244600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:24225400-24251800	Strong transcription	Liver	Liver
46	chr19:24225400-24256400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:24226200-24230800	Weak transcription	HSMM	muscle
48	chr19:24226800-24230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:24226800-24257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:24227400-24237000	Strong transcription	Brain Germinal Matrix	brain

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