Variant report

Variant	rs8106744
Chromosome Location	chr19:40721877-40721878
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40721117..40723953-chr19:40725760..40727528,2	K562	blood:
2	chr19:40714420..40716705-chr19:40721840..40724225,2	K562	blood:
3	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
4	chr19:40721100..40722836-chr19:40775767..40777934,2	MCF-7	breast:
5	chr19:40697182..40698721-chr19:40720965..40722825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction
ENSG00000130758	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10402740	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1129156	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12971806	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12975651	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs189281	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304184	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304189	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2356229	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs339522	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs339523	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs339525	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs339526	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3746005	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4239504	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4490099	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4530264	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802070	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803320	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56694147	0.82[ASN][1000 genomes]
rs7247201	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252471	0.82[EUR][1000 genomes]
rs7258548	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9749056	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv3371347	chr19:40717612-40722010	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv9728	chr19:40720726-40721987	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
2	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:40699600-40722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:40699600-40722200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:40707000-40722400	Weak transcription	HMEC	breast
8	chr19:40709800-40722000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:40710600-40722200	Weak transcription	Primary B cells from cord blood	blood
10	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
11	chr19:40711600-40722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:40712200-40722400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:40712200-40722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:40712200-40722600	Weak transcription	Esophagus	oesophagus
15	chr19:40713200-40725200	Weak transcription	Hela-S3	cervix
16	chr19:40714200-40722000	Strong transcription	Brain Germinal Matrix	brain
17	chr19:40716000-40722200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40716200-40722600	Weak transcription	K562	blood
19	chr19:40717200-40722000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:40717200-40722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:40717200-40722000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr19:40717200-40722000	Weak transcription	Fetal Intestine Large	intestine
23	chr19:40717200-40722000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:40717200-40722000	Weak transcription	NHLF	lung
25	chr19:40717200-40722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:40717200-40722200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:40717200-40722200	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:40717200-40722200	Weak transcription	Thymus	Thymus
29	chr19:40717200-40722400	Weak transcription	Pancreas	Pancrea
30	chr19:40717600-40722000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:40717800-40722600	Weak transcription	Brain Angular Gyrus	brain
32	chr19:40718000-40722000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:40718200-40722000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:40718200-40722200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:40718400-40722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:40718600-40722000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:40718600-40725200	Weak transcription	Dnd41	blood
38	chr19:40718800-40722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:40719000-40722000	Weak transcription	Adipose Nuclei	Adipose
40	chr19:40719000-40722000	Weak transcription	Ovary	ovary
41	chr19:40719200-40722000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr19:40719200-40722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:40719200-40722000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:40719200-40722200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:40719200-40722400	Weak transcription	Left Ventricle	heart
46	chr19:40719200-40722400	Weak transcription	A549	lung
47	chr19:40719400-40722000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:40719400-40722200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:40719400-40722200	Weak transcription	Brain Substantia Nigra	brain
50	chr19:40719400-40722200	Weak transcription	Fetal Intestine Small	intestine

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