Variant report

Variant	rs71508777
Chromosome Location	chr9:19129349-19129350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
2	chr9:19128630..19131218-chr9:19137487..19139302,2	K562	blood:
3	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
4	chr9:19128741..19130939-chr9:19361701..19364444,2	K562	blood:
5	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
6	chr9:19102335..19104420-chr9:19127605..19129443,2	MCF-7	breast:
7	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
8	chr9:19127602..19130118-chr9:19378923..19381565,2	MCF-7	breast:
9	chr9:19128414..19130954-chr9:19155486..19158249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137145	Chromatin interaction
ENSG00000147874	Chromatin interaction
ENSG00000137154	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10963964	0.85[EUR][1000 genomes]
rs10963966	0.87[EUR][1000 genomes]
rs10963967	0.87[EUR][1000 genomes]
rs12237614	0.87[EUR][1000 genomes]
rs34490350	0.87[EUR][1000 genomes]
rs35000581	0.83[EUR][1000 genomes]
rs35629534	0.87[EUR][1000 genomes]
rs35874966	0.87[EUR][1000 genomes]
rs7022748	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2757322	chr9:19126476-19161145	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2759676	chr9:19126476-19161145	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv892702	chr9:19126565-19298581	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19126200-19129400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:19126400-19130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:19126400-19130400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:19126600-19129400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr9:19126600-19129400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr9:19126600-19129400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:19128000-19129600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:19128000-19129800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:19128000-19129800	Weak transcription	K562	blood
10	chr9:19128000-19130600	Enhancers	Dnd41	blood
11	chr9:19128000-19132400	Enhancers	HepG2	liver
12	chr9:19128400-19129800	Weak transcription	HMEC	breast
13	chr9:19128400-19129800	Enhancers	NHEK	skin
14	chr9:19128600-19129600	Weak transcription	A549	lung
15	chr9:19128600-19129800	Enhancers	Hela-S3	cervix
16	chr9:19128600-19130000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr9:19128600-19130600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:19128800-19129400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr9:19128800-19129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:19128800-19129600	Enhancers	GM12878-XiMat	blood
21	chr9:19128800-19129600	Enhancers	HUVEC	blood vessel
22	chr9:19128800-19129800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:19128800-19129800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr9:19128800-19130200	Enhancers	Stomach Mucosa	stomach
25	chr9:19128800-19130400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr9:19128800-19130400	Weak transcription	HSMMtube	muscle
27	chr9:19128800-19130600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:19128800-19130800	Enhancers	NHDF-Ad	bronchial
29	chr9:19128800-19130800	Enhancers	NHLF	lung
30	chr9:19129000-19129400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:19129000-19129400	Enhancers	Liver	Liver
32	chr9:19129000-19129400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr9:19129000-19129400	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:19129000-19129400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr9:19129000-19129600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:19129000-19129600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:19129000-19129800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:19129000-19129800	Enhancers	Fetal Intestine Small	intestine
39	chr9:19129000-19129800	Enhancers	Osteobl	bone
40	chr9:19129000-19130000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:19129000-19130000	Enhancers	Left Ventricle	heart
42	chr9:19129000-19130200	Weak transcription	Primary T cells from cord blood	blood
43	chr9:19129000-19130200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr9:19129000-19130200	Enhancers	Placenta	Placenta
45	chr9:19129000-19130400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:19129000-19130600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr9:19129000-19130600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr9:19129000-19130800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:19129000-19130800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr9:19129000-19130800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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