Variant report

Variant	rs11669578
Chromosome Location	chr19:19385080-19385081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19385022-19385198	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19384577..19386203-chr19:19388312..19391208,2	MCF-7	breast:
2	chr19:19370401..19373352-chr19:19382111..19385169,3	K562	blood:
3	chr19:19379140..19381298-chr19:19384434..19386732,2	K562	blood:
4	chr19:19371281..19373352-chr19:19383019..19385169,2	K562	blood:
5	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:

No data

Variant related genes	Relation type
TM6SF2	TF binding region
ENSG00000267629	TF binding region
ENSG00000064490	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000187664	Chromatin interaction
ENSG00000064489	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]
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]
rs74182631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19381600-19385600	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19381600-19387600	Weak transcription	K562	blood
3	chr19:19383600-19385400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:19383800-19387000	Weak transcription	Brain Substantia Nigra	brain
5	chr19:19383800-19388400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:19384000-19387200	Weak transcription	GM12878-XiMat	blood
7	chr19:19384000-19388200	Weak transcription	HMEC	breast
8	chr19:19384200-19385200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:19384200-19385800	Enhancers	Liver	Liver
10	chr19:19384200-19385800	Weak transcription	Left Ventricle	heart
11	chr19:19384200-19386200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:19384200-19386200	Weak transcription	Aorta	Aorta
13	chr19:19384200-19386400	Weak transcription	HSMM	muscle
14	chr19:19384200-19386400	Weak transcription	NHLF	lung
15	chr19:19384200-19386600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:19384200-19386600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:19384200-19387200	Weak transcription	A549	lung
18	chr19:19384200-19387200	Weak transcription	NH-A	brain
19	chr19:19384200-19387200	Weak transcription	Osteobl	bone
20	chr19:19384200-19387400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:19384400-19385200	Enhancers	Duodenum Mucosa	Duodenum
22	chr19:19384400-19385200	Weak transcription	Fetal Brain Female	brain
23	chr19:19384400-19385400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:19384400-19385400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:19384400-19385400	Enhancers	Fetal Muscle Leg	muscle
26	chr19:19384400-19385600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:19384400-19385600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:19384400-19385600	Weak transcription	Pancreas	Pancrea
29	chr19:19384400-19385600	Weak transcription	Right Ventricle	heart
30	chr19:19384400-19385800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:19384400-19385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:19384400-19385800	Weak transcription	Esophagus	oesophagus
33	chr19:19384400-19386000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:19384400-19386000	Weak transcription	Gastric	stomach
35	chr19:19384400-19386200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:19384400-19386200	Enhancers	Fetal Intestine Large	intestine
37	chr19:19384400-19386400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19384400-19386400	Weak transcription	Colonic Mucosa	Colon
39	chr19:19384400-19386400	Weak transcription	Ovary	ovary
40	chr19:19384400-19386400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:19384400-19386600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:19384400-19386800	Genic enhancers	Fetal Intestine Small	intestine
43	chr19:19384400-19388400	Weak transcription	Psoas Muscle	Psoas
44	chr19:19384400-19391600	Weak transcription	Hela-S3	cervix
45	chr19:19384400-19392200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
47	chr19:19384600-19385200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:19384600-19385200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:19384600-19385400	Weak transcription	Brain Germinal Matrix	brain
50	chr19:19384600-19385400	Weak transcription	Small Intestine	intestine

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