Variant report

Variant	rs11889976
Chromosome Location	chr2:188445461-188445462
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188445350..188448050-chr2:188450278..188452976,4	K562	blood:
2	chr2:188411707..188414780-chr2:188445119..188447288,3	K562	blood:
3	chr2:188440946..188443688-chr2:188443875..188445768,2	MCF-7	breast:
4	chr2:188363780..188367877-chr2:188441342..188445875,5	MCF-7	breast:
5	chr2:188363929..188365341-chr2:188444758..188446502,16	K562	blood:
6	chr2:188440243..188443082-chr2:188444632..188448024,3	K562	blood:
7	chr2:188363950..188366399-chr2:188445083..188446553,13	MCF-7	breast:
8	chr2:188445112..188445612-chr2:223767773..223768610,2	K562	blood:
9	chr2:188363922..188366266-chr2:188444694..188447033,35	MCF-7	breast:
10	chr2:188360925..188366256-chr2:188443265..188447959,7	K562	blood:
11	chr2:188366835..188367676-chr2:188445069..188445969,2	MCF-7	breast:
12	chr2:188443788..188447797-chr2:188450278..188454059,4	K562	blood:
13	chr2:188365429..188366272-chr2:188444751..188446554,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000003436	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4427985	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4496296	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6746921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583251	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875585	chr2:188424525-188626214	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv584039	chr2:188435643-188482933	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188440000-188445600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:188440400-188445600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:188440600-188445600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:188440600-188445600	Weak transcription	HSMM	muscle
5	chr2:188440800-188445600	Weak transcription	Fetal Kidney	kidney
6	chr2:188441000-188445600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:188441800-188445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:188442000-188445600	Weak transcription	Fetal Lung	lung
9	chr2:188442200-188445600	Weak transcription	Stomach Mucosa	stomach
10	chr2:188442400-188445600	Weak transcription	Aorta	Aorta
11	chr2:188442400-188445600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:188442400-188450800	Weak transcription	Hela-S3	cervix
13	chr2:188442600-188445600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:188444400-188446200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:188445000-188445600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:188445200-188445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:188445200-188445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:188445200-188445600	Enhancers	Adipose Nuclei	Adipose
19	chr2:188445200-188445600	Enhancers	Fetal Intestine Large	intestine
20	chr2:188445200-188445600	Enhancers	Fetal Intestine Small	intestine
21	chr2:188445200-188445600	Enhancers	Psoas Muscle	Psoas
22	chr2:188445200-188445600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:188445200-188445600	Enhancers	HepG2	liver
24	chr2:188445200-188445600	Enhancers	HUVEC	blood vessel
25	chr2:188445200-188445600	Enhancers	K562	blood
26	chr2:188445200-188445600	Enhancers	NHDF-Ad	bronchial
27	chr2:188445200-188445600	Enhancers	Osteobl	bone
28	chr2:188445200-188445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:188445200-188445800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:188445200-188445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:188445200-188446000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:188445200-188446200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:188445200-188446600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:188445200-188446600	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:188445200-188446600	Active TSS	Right Atrium	heart
36	chr2:188445200-188446600	Enhancers	NHLF	lung
37	chr2:188445400-188445600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:188445400-188445600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:188445400-188445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:188445400-188445600	Enhancers	Colon Smooth Muscle	Colon
41	chr2:188445400-188445600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr2:188445400-188445600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:188445400-188445800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:188445400-188445800	Flanking Active TSS	A549	lung
45	chr2:188445400-188445800	Flanking Active TSS	NH-A	brain
46	chr2:188445400-188446000	Active TSS	Liver	Liver
47	chr2:188445400-188446200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:188445400-188446600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:188445400-188446600	Enhancers	Dnd41	blood

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