Variant report

Variant	rs7254581
Chromosome Location	chr19:36250646-36250647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36250585-36250847	K562	blood:	n/a	n/a
2	POLR2A	chr19:36250613-36250760	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:36250584-36250936	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36249097..36250751-chr19:36253279..36257027,3	K562	blood:
2	chr19:36247404..36252021-chr19:36265348..36272678,7	MCF-7	breast:
3	chr19:36248580..36254743-chr19:36274692..36280659,6	K562	blood:
4	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
5	chr19:36249138..36251092-chr19:36255483..36258452,2	MCF-7	breast:
6	chr19:36248761..36250845-chr19:36272724..36275459,2	MCF-7	breast:
7	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:
8	chr19:36247584..36253409-chr19:36264102..36268750,7	K562	blood:

No data

Variant related genes	Relation type
HSPB6	TF binding region
C19orf55	TF binding region
ENSG00000167595	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000267796	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11878987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970648	0.91[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs231241	0.91[CEU][hapmap];0.94[GIH][hapmap];0.93[LWK][hapmap];0.93[TSI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34014681	0.84[ASN][1000 genomes]
rs34485834	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632325	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35843967	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7252936	0.81[EUR][1000 genomes]
rs7256373	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36248400-36250800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:36249400-36251400	Enhancers	Spleen	Spleen
3	chr19:36249600-36250800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:36249600-36250800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:36249600-36251000	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:36249600-36251000	Enhancers	Fetal Heart	heart
7	chr19:36249600-36251000	Enhancers	Pancreas	Pancrea
8	chr19:36249600-36251400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:36249600-36251800	Weak transcription	Ovary	ovary
10	chr19:36249600-36252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:36249800-36250800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:36249800-36250800	Enhancers	Primary T cells from cord blood	blood
13	chr19:36249800-36250800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:36249800-36250800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr19:36249800-36250800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:36249800-36250800	Enhancers	Brain Angular Gyrus	brain
17	chr19:36249800-36250800	Enhancers	Lung	lung
18	chr19:36249800-36250800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:36249800-36251000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:36249800-36251000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr19:36249800-36251000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:36249800-36251800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36249800-36251800	Weak transcription	HSMMtube	muscle
24	chr19:36249800-36255000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:36249800-36265600	Weak transcription	Right Atrium	heart
26	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
27	chr19:36250000-36250800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr19:36250000-36250800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr19:36250000-36250800	Weak transcription	Fetal Intestine Large	intestine
30	chr19:36250000-36250800	Flanking Active TSS	Hela-S3	cervix
31	chr19:36250000-36251000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:36250000-36251000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:36250000-36251000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:36250000-36251000	Enhancers	Liver	Liver
35	chr19:36250000-36251000	Enhancers	Colon Smooth Muscle	Colon
36	chr19:36250000-36251000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr19:36250000-36251000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr19:36250000-36251000	Genic enhancers	Fetal Stomach	stomach
39	chr19:36250000-36251000	Enhancers	Left Ventricle	heart
40	chr19:36250000-36251400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:36250000-36251800	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:36250000-36252200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr19:36250000-36252400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:36250000-36252800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:36250000-36254800	Weak transcription	Adipose Nuclei	Adipose
46	chr19:36250000-36255000	Weak transcription	Esophagus	oesophagus
47	chr19:36250000-36255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:36250000-36258400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:36250000-36265600	Weak transcription	Brain Substantia Nigra	brain
50	chr19:36250200-36250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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