Variant report

Variant	rs919307
Chromosome Location	chr19:41116251-41116252
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41114826-41117365	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:41115338-41116634	HCT-116	colon:	n/a	n/a
3	POLR2A	chr19:41114946-41117153	MCF10A-Er-Src	breast:	n/a	n/a
4	SP1	chr19:41115687-41116263	H1-hESC	embryonic stem cell:	n/a	chr19:41116054-41116066 chr19:41116021-41116030 chr19:41115958-41115968 chr19:41116055-41116065 chr19:41115958-41115972 chr19:41116040-41116049 chr19:41116054-41116066 chr19:41116021-41116035 chr19:41116039-41116051 chr19:41116055-41116065 chr19:41115957-41115968 chr19:41116020-41116032 chr19:41116039-41116051 chr19:41116022-41116031 chr19:41116038-41116059 chr19:41116076-41116090 chr19:41116020-41116032 chr19:41115876-41115885
5	MAX	chr19:41115489-41116582	Hela-S3	cervix:	n/a	chr19:41116027-41116036
6	RUNX3	chr19:41115986-41116288	GM12878	blood:	n/a	n/a
7	REST	chr19:41116209-41116642	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr19:41115275-41116614	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:41115599-41116554	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr19:41116159-41116809	SK-N-SH	brain:	n/a	chr19:41116760-41116769
11	EGR1	chr19:41115448-41116384	HCT-116	colon:	n/a	chr19:41115854-41115865 chr19:41115592-41115602 chr19:41115852-41115866 chr19:41116023-41116033 chr19:41115854-41115864 chr19:41115579-41115589 chr19:41116023-41116036 chr19:41115850-41115864
12	POLR2A	chr19:41115801-41116567	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr19:41114805-41117539	K562	blood:	n/a	n/a
14	POLR2A	chr19:41115621-41116305	SK-N-SH	brain:	n/a	n/a
15	MAZ	chr19:41115392-41116262	GM12878	blood:	n/a	chr19:41116027-41116036
16	MAZ	chr19:41115455-41116477	Hela-S3	cervix:	n/a	chr19:41116027-41116036
17	RCOR1	chr19:41115586-41116332	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:41115253-41117026	SK-N-MC	brain:	n/a	n/a
19	HMGN3	chr19:41115398-41116559	K562	blood:	n/a	n/a
20	POLR2A	chr19:41114965-41117433	Hela-S3	cervix:	n/a	n/a
21	ZNF143	chr19:41115870-41116318	Hela-S3	cervix:	n/a	chr19:41116075-41116093 chr19:41116026-41116044
22	NR2F2	chr19:41115447-41116295	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:41115447-41116288	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr19:41115410-41116507	PANC-1	pancreas:	n/a	n/a
25	SP1	chr19:41115605-41116379	A549	lung:	n/a	chr19:41116054-41116066 chr19:41116021-41116030 chr19:41115958-41115968 chr19:41116055-41116065 chr19:41115958-41115972 chr19:41116040-41116049 chr19:41116054-41116066 chr19:41116021-41116035 chr19:41116039-41116051 chr19:41116055-41116065 chr19:41115957-41115968 chr19:41116020-41116032 chr19:41116039-41116051 chr19:41116022-41116031 chr19:41116038-41116059 chr19:41116076-41116090 chr19:41116020-41116032 chr19:41115876-41115885
26	STAT5A	chr19:41116051-41116336	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:41115286-41116714	HCT-116	colon:	n/a	n/a
28	MAX	chr19:41116229-41116722	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr19:41116116-41116453	A549	lung:	n/a	n/a
30	BCL3	chr19:41115847-41116566	A549	lung:	n/a	chr19:41116021-41116030
31	EGR1	chr19:41115234-41116567	HCT-116	colon:	n/a	chr19:41115854-41115865 chr19:41115592-41115602 chr19:41115852-41115866 chr19:41116023-41116033 chr19:41115854-41115864 chr19:41115579-41115589 chr19:41116023-41116036 chr19:41115850-41115864
32	POLR2A	chr19:41114932-41116294	K562	blood:	n/a	n/a
33	SP4	chr19:41115768-41116334	H1-hESC	embryonic stem cell:	n/a	chr19:41116052-41116068 chr19:41116020-41116036 chr19:41116054-41116070 chr19:41116037-41116053 chr19:41115957-41115968
34	CHD2	chr19:41115312-41116503	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:41114887-41117244	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr19:41115185-41116286	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40930916..40933044-chr19:41115894..41119159,3	MCF-7	breast:
2	chr19:41093158..41095920-chr19:41115359..41117293,2	K562	blood:
3	chr19:41082563..41084216-chr19:41114074..41116543,2	K562	blood:
4	chr19:40929828..40933213-chr19:41114237..41116915,3	MCF-7	breast:
5	chr15:73075553..73076361-chr19:41115491..41116301,2	Hela-S3	cervix:
6	chr19:41114462..41116761-chr19:41130129..41133109,2	MCF-7	breast:
7	chr19:41104685..41106959-chr19:41114610..41116415,2	MCF-7	breast:
8	chr19:41115624..41118176-chr19:41306706..41309360,2	MCF-7	breast:
9	chr19:41081088..41083004-chr19:41115582..41117218,2	MCF-7	breast:

Variant related genes	Relation type
LTBP4	TF binding region
RN7SL758P	TF binding region
ENSG00000197019	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000159322	Chromatin interaction
ENSG00000268797	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10402698	0.80[ASN][1000 genomes]
rs10403467	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10403833	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403963	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10405930	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410606	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1051303	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083561	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1131620	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11667706	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667772	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11668582	0.87[EUR][1000 genomes]
rs12611045	0.96[ASN][1000 genomes]
rs12980111	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1318544	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864074	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1864078	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278246	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303727	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303729	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2369006	0.97[ASN][1000 genomes]
rs2604902	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28571670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28649715	0.96[ASN][1000 genomes]
rs28655571	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs392726	0.88[ASN][1000 genomes]
rs393569	0.83[ASN][1000 genomes]
rs396118	0.87[ASN][1000 genomes]
rs404584	0.84[ASN][1000 genomes]
rs406133	0.83[ASN][1000 genomes]
rs415075	0.84[ASN][1000 genomes]
rs420720	0.86[ASN][1000 genomes]
rs4803348	0.96[ASN][1000 genomes]
rs56353506	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7171	0.88[ASN][1000 genomes]
rs7259067	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259237	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259554	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8107014	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers 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	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv911724	chr19:41089505-41165252	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv911726	chr19:41090190-41141434	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv870022	chr19:41113071-41178982	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41106000-41136800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41109800-41122600	Weak transcription	Aorta	Aorta
3	chr19:41110000-41118200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:41114400-41119400	Weak transcription	Ovary	ovary
5	chr19:41114800-41117400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:41115000-41116400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr19:41115000-41116400	Flanking Active TSS	K562	blood
8	chr19:41115000-41116800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41115000-41118000	Weak transcription	Fetal Kidney	kidney
10	chr19:41115200-41116400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr19:41115200-41116400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:41115200-41116400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:41115200-41116400	Flanking Bivalent TSS/Enh	Thymus	Thymus
14	chr19:41115200-41116400	Flanking Active TSS	GM12878-XiMat	blood
15	chr19:41115200-41116600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:41115200-41116600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:41115200-41116600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:41115200-41116600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr19:41115200-41116600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr19:41115200-41116600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr19:41115200-41116600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr19:41115200-41116600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr19:41115200-41116600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr19:41115200-41116800	Active TSS	Rectal Smooth Muscle	rectum
25	chr19:41115200-41117000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:41115200-41117400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:41115200-41117800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr19:41115200-41118000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:41115200-41118000	Flanking Active TSS	HMEC	breast
30	chr19:41115400-41116400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr19:41115400-41116400	Flanking Active TSS	Liver	Liver
32	chr19:41115400-41116400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr19:41115400-41116400	Flanking Active TSS	HUVEC	blood vessel
34	chr19:41115400-41116600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr19:41115400-41116600	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr19:41115400-41116600	Active TSS	Psoas Muscle	Psoas
37	chr19:41115400-41116600	Flanking Active TSS	NH-A	brain
38	chr19:41115400-41116800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:41115400-41116800	Bivalent Enhancer	Fetal Brain Male	brain
40	chr19:41115400-41117000	Bivalent Enhancer	Fetal Heart	heart
41	chr19:41115400-41117000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr19:41115600-41116400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:41115600-41116400	Active TSS	Gastric	stomach
44	chr19:41115600-41116400	Active TSS	Small Intestine	intestine
45	chr19:41115600-41116600	Active TSS	Brain Anterior Caudate	brain
46	chr19:41115600-41116800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr19:41115800-41116600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr19:41115800-41117000	Enhancers	Primary T cells from cord blood	blood
49	chr19:41115800-41117000	Enhancers	Lung	lung
50	chr19:41115800-41118200	Enhancers	Spleen	Spleen

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