Variant report

Variant	rs11890748
Chromosome Location	chr2:87035484-87035485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86991626..86993002-chr2:87034779..87035758,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153561	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11893045	0.82[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[EUR][1000 genomes]
rs11898171	1.00[EUR][1000 genomes]
rs36226881	1.00[EUR][1000 genomes]
rs56216112	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56761572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594790	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57627212	1.00[EUR][1000 genomes]
rs59013526	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59213426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59955770	1.00[AMR][1000 genomes]
rs60553565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61400028	0.93[AMR][1000 genomes]
rs73947270	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73947271	1.00[EUR][1000 genomes]
rs7581404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
16	nsv961427	chr2:87032925-87059989	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87034000-87037000	Active TSS	Thymus	Thymus
2	chr2:87034000-87037400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
3	chr2:87034200-87035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:87034200-87035800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:87034200-87037200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:87034400-87035600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:87034400-87035600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:87034400-87035600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:87034400-87035600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr2:87034400-87035600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr2:87034400-87035600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr2:87034400-87035600	Active TSS	Fetal Brain Male	brain
13	chr2:87034400-87035600	Active TSS	Fetal Heart	heart
14	chr2:87034400-87035600	Active TSS	Right Atrium	heart
15	chr2:87034400-87035600	Active TSS	NHEK	skin
16	chr2:87034400-87035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:87034400-87035800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:87034400-87035800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:87034400-87035800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:87034400-87035800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:87034400-87035800	Active TSS	Brain Substantia Nigra	brain
22	chr2:87034400-87035800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr2:87034400-87036000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:87034400-87036000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:87034400-87036000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:87034400-87036000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:87034400-87036000	Flanking Active TSS	Right Ventricle	heart
28	chr2:87034400-87036200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr2:87034400-87036200	Flanking Active TSS	HMEC	breast
30	chr2:87034600-87035600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:87034600-87035600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:87034600-87035600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:87034600-87035600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
34	chr2:87034600-87035600	Active TSS	Placenta Amnion	Placenta Amnion
35	chr2:87034600-87035600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
36	chr2:87034600-87035600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr2:87034600-87035800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr2:87034600-87035800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:87034600-87035800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:87034600-87035800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:87034600-87035800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:87034600-87035800	Active TSS	Fetal Intestine Large	intestine
43	chr2:87034600-87035800	Active TSS	Fetal Thymus	thymus
44	chr2:87034600-87035800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
45	chr2:87034600-87036000	Flanking Active TSS	Liver	Liver
46	chr2:87034600-87036000	Flanking Active TSS	Dnd41	blood
47	chr2:87034600-87036200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:87034600-87036200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr2:87034600-87036200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr2:87034600-87036200	Active TSS	A549	lung

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