Variant report

Variant	rs7250987
Chromosome Location	chr19:21329836-21329837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21328122..21331831-chr19:21332882..21335579,3	K562	blood:
2	chr19:21329795..21332186-chr19:21344748..21346568,2	K562	blood:
3	chr19:21327774..21330342-chr19:21332349..21334379,2	MCF-7	breast:
4	chr19:21324608..21326238-chr19:21328530..21331210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196705	Chromatin interaction
ENSG00000240522	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10406253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10407190	0.97[ASN][1000 genomes]
rs10408496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10410901	1.00[CEU][hapmap]
rs10854042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668640	0.96[ASN][1000 genomes]
rs12608652	0.94[JPT][hapmap]
rs12980860	0.96[ASN][1000 genomes]
rs1470021	1.00[CEU][hapmap]
rs1609441	1.00[CEU][hapmap]
rs1864208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975056	0.96[ASN][1000 genomes]
rs2115498	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2358806	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2358807	0.94[ASN][1000 genomes]
rs2358808	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs250003	1.00[CEU][hapmap]
rs2884555	0.86[ASN][1000 genomes]
rs29703	0.93[EUR][1000 genomes]
rs29705	0.93[EUR][1000 genomes]
rs29715	0.93[EUR][1000 genomes]
rs29720	0.93[EUR][1000 genomes]
rs29722	0.93[EUR][1000 genomes]
rs29729	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs388229	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4324267	0.90[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs57740	1.00[CEU][hapmap];0.83[MEX][hapmap]
rs6511195	1.00[CEU][hapmap]
rs6511202	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6511204	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6511206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs70950324	0.82[ASN][1000 genomes]
rs7251158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254094	0.94[JPT][hapmap]
rs7256576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258575	0.80[CHD][hapmap];0.94[JPT][hapmap]
rs72620580	0.86[EUR][1000 genomes]
rs72620581	0.86[EUR][1000 genomes]
rs8101918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8106801	1.00[CEU][hapmap]
rs8110848	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
15	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21330000	Weak transcription	Colonic Mucosa	Colon
2	chr19:21325400-21332400	Weak transcription	Gastric	stomach
3	chr19:21325400-21332600	Weak transcription	Spleen	Spleen
4	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
5	chr19:21325600-21334200	Weak transcription	Psoas Muscle	Psoas
6	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:21325800-21330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:21325800-21332400	Weak transcription	Liver	Liver
9	chr19:21325800-21332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:21325800-21332600	Weak transcription	Brain Substantia Nigra	brain
11	chr19:21326000-21330000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr19:21326000-21330200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:21326000-21330400	Weak transcription	Right Atrium	heart
14	chr19:21326000-21331400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:21326000-21332400	Weak transcription	Brain Anterior Caudate	brain
16	chr19:21326000-21332600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:21326000-21332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:21326000-21332800	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:21326000-21337000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:21326000-21338400	Weak transcription	Aorta	Aorta
21	chr19:21326000-21352600	Weak transcription	Right Ventricle	heart
22	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:21326200-21331400	Strong transcription	Fetal Stomach	stomach
24	chr19:21326200-21331800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr19:21326200-21333800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:21326200-21336200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr19:21326200-21336200	Strong transcription	Adipose Nuclei	Adipose
28	chr19:21326200-21336800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:21326200-21337000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:21326400-21331000	Strong transcription	Fetal Intestine Large	intestine
31	chr19:21326400-21331400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:21326400-21332200	Strong transcription	Osteobl	bone
33	chr19:21326400-21332400	Strong transcription	Fetal Thymus	thymus
34	chr19:21326400-21332600	Weak transcription	Pancreas	Pancrea
35	chr19:21326400-21333000	Strong transcription	Fetal Kidney	kidney
36	chr19:21326400-21334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:21326400-21335200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:21326400-21336200	Strong transcription	Fetal Lung	lung
39	chr19:21326400-21336600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:21326600-21330600	Strong transcription	Placenta	Placenta
41	chr19:21326600-21331400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:21326600-21331400	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:21326600-21332400	Weak transcription	Esophagus	oesophagus
44	chr19:21326600-21336200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:21326600-21336400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:21326600-21337000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:21326800-21330400	Weak transcription	HepG2	liver
48	chr19:21326800-21332400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:21326800-21333200	ZNF genes & repeats	Dnd41	blood
50	chr19:21326800-21333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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