Variant report

Variant	rs74182631
Chromosome Location	chr19:19386738-19386739
allele	C/T
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	chr19:19386425-19386819	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:19386444-19386790	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:19385217-19386835	K562	blood:	n/a	n/a
4	POLR2A	chr19:19386384-19386789	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:19386650-19386746	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:19385824-19386788	K562	blood:	n/a	n/a
7	POLR2A	chr19:19386723-19386744	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:19386543-19386828	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:19386454-19386738	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:19386652-19386873	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19386675..19389436-chr19:19391039..19392571,2	K562	blood:

Variant related genes	Relation type
ENSG00000267629	TF binding region
TM6SF2	TF binding region
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11668749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17683766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751021	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74182629	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription 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	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911306	chr19:19366643-19391838	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19381600-19387600	Weak transcription	K562	blood
2	chr19:19383800-19387000	Weak transcription	Brain Substantia Nigra	brain
3	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:19384000-19387200	Weak transcription	GM12878-XiMat	blood
5	chr19:19384000-19388200	Weak transcription	HMEC	breast
6	chr19:19384200-19387200	Weak transcription	A549	lung
7	chr19:19384200-19387200	Weak transcription	NH-A	brain
8	chr19:19384200-19387200	Weak transcription	Osteobl	bone
9	chr19:19384200-19387400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:19384400-19386800	Genic enhancers	Fetal Intestine Small	intestine
11	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
12	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
13	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
15	chr19:19384600-19387000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:19384600-19387200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:19384600-19387600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:19384600-19388400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19384600-19389000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:19384800-19387000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:19384800-19387800	Enhancers	HSMMtube	muscle
22	chr19:19384800-19390400	Weak transcription	Fetal Brain Male	brain
23	chr19:19384800-19394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:19384800-19403200	Weak transcription	HUVEC	blood vessel
25	chr19:19385000-19387200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:19385000-19388200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:19385200-19387200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:19385200-19387200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:19385200-19388800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:19385200-19389600	Strong transcription	Fetal Brain Female	brain
31	chr19:19385200-19396400	Weak transcription	NHDF-Ad	bronchial
32	chr19:19385200-19403400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:19385400-19387000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr19:19385400-19391000	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr19:19385400-19393000	Strong transcription	Brain Germinal Matrix	brain
36	chr19:19385400-19409800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:19385400-19428400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:19385600-19387000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:19385600-19387200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:19385600-19387400	ZNF genes & repeats	Lung	lung
41	chr19:19385600-19391000	Strong transcription	Brain Angular Gyrus	brain
42	chr19:19385600-19391200	Strong transcription	Brain Anterior Caudate	brain
43	chr19:19385600-19392800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:19385600-19392800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:19385600-19393400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:19385600-19395000	Strong transcription	Right Ventricle	heart
47	chr19:19385600-19396400	Strong transcription	Thymus	Thymus
48	chr19:19385600-19401200	Strong transcription	Primary T cells from cord blood	blood
49	chr19:19385600-19401600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:19385600-19403200	Strong transcription	Fetal Stomach	stomach

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