Variant report

Variant	rs1891971
Chromosome Location	chr9:95994748-95994749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr9:95994681-95995452	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr9:95994711-95995204	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF143	chr9:95994540-95994753	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFIC	chr9:95994729-95995373	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr9:95994618-95995468	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr9:95994688-95995357	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr9:95994486-95995475	ECC-1	luminal epithelium:	n/a	chr9:95995001-95995008

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95985503..95987734-chr9:95991883..95994859,2	K562	blood:
2	chr9:95993583..95995439-chr9:95997660..95999567,2	MCF-7	breast:
3	chr9:95959322..95962228-chr9:95991755..95995134,3	MCF-7	breast:
4	chr9:95896382..95898077-chr9:95992649..95994936,2	MCF-7	breast:

No data

Variant related genes	Relation type
WNK2	TF binding region
ENSG00000131669	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10122466	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10512233	1.00[CEU][hapmap]
rs1539670	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs16909000	1.00[CEU][hapmap]
rs16909005	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16909016	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16936752	1.00[CEU][hapmap]
rs1891972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891973	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1936403	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1970622	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4744202	1.00[CEU][hapmap]
rs4744205	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55692827	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55706397	0.85[AMR][1000 genomes]
rs55795421	0.88[ASN][1000 genomes]
rs6479467	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7029968	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72743431	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72743433	0.85[AMR][1000 genomes]
rs72743435	0.85[AMR][1000 genomes]
rs72743442	0.88[ASN][1000 genomes]
rs72743443	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72743444	0.80[ASN][1000 genomes]
rs72743445	0.80[ASN][1000 genomes]
rs7859604	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95984800-95998000	Enhancers	Pancreas	Pancrea
2	chr9:95986200-96006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:95987200-95996800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:95987200-95997200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:95987200-96000200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:95987400-95994800	Weak transcription	Psoas Muscle	Psoas
7	chr9:95987400-95995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:95987400-96001000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:95987400-96005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:95988200-96006800	Weak transcription	Esophagus	oesophagus
11	chr9:95988400-95999800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:95988600-95997200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:95990800-95995000	Enhancers	Colonic Mucosa	Colon
14	chr9:95991200-95994800	Strong transcription	HepG2	liver
15	chr9:95991200-95995200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr9:95992200-95995200	Enhancers	Stomach Mucosa	stomach
17	chr9:95992200-95999800	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:95992600-95995200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr9:95993000-95995000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr9:95993200-95995000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr9:95993400-95995000	Enhancers	Left Ventricle	heart
22	chr9:95993400-95995000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr9:95993600-95995000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:95993600-95997600	Weak transcription	Fetal Lung	lung
25	chr9:95993600-96005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:95993800-95995400	Genic enhancers	Fetal Intestine Small	intestine
27	chr9:95993800-95997400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:95993800-96001800	Weak transcription	Spleen	Spleen
29	chr9:95994000-95994800	Strong transcription	Brain Germinal Matrix	brain
30	chr9:95994000-95995000	Strong transcription	Fetal Brain Female	brain
31	chr9:95994000-95996400	Weak transcription	Placenta	Placenta
32	chr9:95994000-95997200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:95994000-95997400	Weak transcription	Fetal Heart	heart
34	chr9:95994000-96001000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:95994200-95995200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:95994200-95995200	Genic enhancers	Fetal Intestine Large	intestine
37	chr9:95994200-95996800	Weak transcription	Right Ventricle	heart
38	chr9:95994200-95997200	Weak transcription	Brain Anterior Caudate	brain
39	chr9:95994400-95995200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:95994400-95996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:95994400-95997200	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:95994600-95994800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:95994600-95994800	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr9:95994600-95995000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:95994600-95995400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr9:95994600-95996400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:95994600-95997400	Weak transcription	Brain Substantia Nigra	brain
48	chr9:95994600-95997600	Weak transcription	Gastric	stomach

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