Variant report

Variant	rs60948789
Chromosome Location	chr19:20013267-20013268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19976692..19979119-chr19:20011140..20013486,2	K562	blood:
2	chr19:20012007..20015625-chr19:20016618..20018648,3	K562	blood:
3	chr19:19976218..19978192-chr19:20011161..20013662,4	K562	blood:
4	chr19:20012861..20014472-chr19:20018867..20021328,2	K562	blood:

Variant related genes	Relation type
ENSG00000256771	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10414504	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11085281	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12462916	0.93[ASN][1000 genomes]
rs2098330	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2335369	0.89[ASN][1000 genomes]
rs2335370	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57927218	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511057	0.87[AMR][1000 genomes]
rs6511060	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245577	0.89[ASN][1000 genomes]
rs7247240	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253941	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254200	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254283	0.93[ASN][1000 genomes]
rs7255055	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7259551	0.89[ASN][1000 genomes]
rs7260360	0.88[ASN][1000 genomes]
rs73532745	0.89[ASN][1000 genomes]
rs73924111	0.89[ASN][1000 genomes]
rs73925535	0.90[ASN][1000 genomes]
rs7507464	0.89[ASN][1000 genomes]
rs8100030	0.86[ASN][1000 genomes]
rs8113346	0.90[ASN][1000 genomes]
rs9676957	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
14	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
15	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers 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	43 gene(s)	inside rSNPs	diseases
17	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1845482	chr19:20006144-20014389	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20010800-20013400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr19:20011000-20013400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:20011000-20013400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:20011000-20013400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:20011000-20013400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:20011000-20013400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:20011000-20013400	Active TSS	Colonic Mucosa	Colon
8	chr19:20011000-20013400	Active TSS	Fetal Kidney	kidney
9	chr19:20011000-20013400	Active TSS	Osteobl	bone
10	chr19:20011000-20014000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:20011000-20014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr19:20011000-20014400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:20011200-20013400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:20011200-20013400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:20011200-20013400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:20011200-20013400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:20011400-20013800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr19:20011600-20013600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:20011600-20013800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:20012600-20013400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:20012800-20013400	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:20012800-20013400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr19:20012800-20013400	Enhancers	Lung	lung
25	chr19:20012800-20014000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr19:20012800-20017200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
28	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:20013000-20013400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr19:20013000-20013400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:20013000-20013400	Enhancers	Placenta	Placenta
34	chr19:20013000-20013400	Enhancers	Left Ventricle	heart
35	chr19:20013000-20013400	Flanking Active TSS	K562	blood
36	chr19:20013000-20013600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:20013000-20014000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:20013000-20014000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:20013000-20014000	Weak transcription	Thymus	Thymus
40	chr19:20013000-20014400	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr19:20013000-20014600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:20013000-20015400	Weak transcription	Right Ventricle	heart
43	chr19:20013000-20016000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:20013000-20019000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:20013000-20019800	Weak transcription	HSMM	muscle
46	chr19:20013000-20022600	Weak transcription	Aorta	Aorta
47	chr19:20013000-20024200	Weak transcription	Ovary	ovary
48	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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