Variant report

Variant	rs1056995
Chromosome Location	chr19:42591484-42591485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42590760..42592697-chr19:42594281..42595900,2	K562	blood:
2	chr19:42589152..42591857-chr19:42830713..42833464,2	K562	blood:
3	chr19:42583632..42588912-chr19:42590369..42593194,5	MCF-7	breast:
4	chr19:42589857..42592329-chr19:42596114..42599320,3	K562	blood:
5	chr19:42588900..42591593-chr19:42593141..42596023,2	K562	blood:

Variant related genes	Relation type
ENSG00000268525	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10407506	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs1205817	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61195828	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42582200-42596000	Weak transcription	Right Atrium	heart
2	chr19:42582200-42597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:42582400-42592800	Weak transcription	HSMMtube	muscle
4	chr19:42582400-42594000	Weak transcription	Fetal Brain Male	brain
5	chr19:42582400-42594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42582400-42595600	Weak transcription	Fetal Heart	heart
7	chr19:42582400-42595800	Weak transcription	Hela-S3	cervix
8	chr19:42582400-42597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:42585800-42595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:42585800-42595800	Weak transcription	Small Intestine	intestine
11	chr19:42586000-42592400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:42586000-42592600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:42586000-42592800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:42586000-42594000	Weak transcription	Colonic Mucosa	Colon
15	chr19:42586000-42594800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:42586000-42595600	Weak transcription	Gastric	stomach
17	chr19:42586000-42595800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:42586000-42598800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:42586000-42601600	Weak transcription	Pancreas	Pancrea
20	chr19:42586000-42606400	Weak transcription	Liver	Liver
21	chr19:42586200-42592200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:42586200-42592800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:42586200-42592800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:42586200-42593000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:42586200-42593000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:42586200-42593000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:42586200-42595400	Weak transcription	Esophagus	oesophagus
28	chr19:42586200-42595400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:42586200-42598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:42586200-42600400	Weak transcription	Brain Substantia Nigra	brain
31	chr19:42586400-42591800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:42586400-42591800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:42586400-42592000	Weak transcription	HSMM	muscle
34	chr19:42586400-42592000	Weak transcription	NHLF	lung
35	chr19:42586400-42592400	Weak transcription	Primary B cells from cord blood	blood
36	chr19:42586400-42592600	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:42586400-42592800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:42586400-42593000	Weak transcription	Aorta	Aorta
39	chr19:42586400-42593200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:42586400-42593400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr19:42586400-42596000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:42586400-42596200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:42586400-42597800	Weak transcription	Primary T cells from cord blood	blood
44	chr19:42586600-42591800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:42586600-42591800	Weak transcription	GM12878-XiMat	blood
46	chr19:42586600-42592200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:42586600-42592200	Weak transcription	Fetal Thymus	thymus
48	chr19:42586600-42592200	Weak transcription	HUVEC	blood vessel
49	chr19:42586600-42592400	Weak transcription	NHEK	skin
50	chr19:42586600-42592600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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