Variant report

Variant	rs11892719
Chromosome Location	chr2:48956431-48956432
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48955353..48957599-chr2:48959365..48961603,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11887058	0.99[ASN][1000 genomes]
rs11897846	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4596023	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs4953618	0.89[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4953619	0.95[CHB][hapmap];0.96[JPT][hapmap];0.96[ASN][1000 genomes]
rs4953620	0.95[ASN][1000 genomes]
rs7561278	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv817851	chr2:48941428-48973127	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48947600-48956600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:48950600-48960400	Weak transcription	Ovary	ovary
3	chr2:48950800-48959600	Weak transcription	Adipose Nuclei	Adipose
4	chr2:48954000-48957000	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:48955000-48956600	Enhancers	Fetal Heart	heart
6	chr2:48955200-48957000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:48955200-48957200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:48955400-48956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:48955400-48957800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:48955400-48958000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:48955400-48958000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:48955600-48957800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:48955600-48958000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:48955600-48960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:48955800-48956600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:48955800-48956600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:48955800-48956800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:48955800-48956800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:48956000-48956600	Enhancers	Brain Hippocampus Middle	brain
20	chr2:48956000-48956600	Enhancers	Fetal Brain Female	brain
21	chr2:48956000-48956800	Enhancers	Brain Anterior Caudate	brain
22	chr2:48956000-48957000	Enhancers	Brain Germinal Matrix	brain
23	chr2:48956000-48958200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:48956000-48959800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:48956200-48956600	Enhancers	Fetal Brain Male	brain
26	chr2:48956200-48957000	Enhancers	Brain Angular Gyrus	brain
27	chr2:48956200-48957200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:48956400-48956800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:48956400-48960000	Weak transcription	Fetal Stomach	stomach

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