Variant report

Variant	rs4637174
Chromosome Location	chr2:48960317-48960318
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	chr2:48955353..48957599-chr2:48959365..48961603,2	MCF-7	breast:
2	chr2:48959559..48961435-chr2:48964209..48965937,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10495959	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs6751138	0.93[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs7561945	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs7562215	1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs7567846	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7588339	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48950600-48960400	Weak transcription	Ovary	ovary
2	chr2:48955600-48960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:48957800-48960400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:48957800-48960400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48957800-48960400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:48957800-48960400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:48959600-48961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:48959600-48963200	Enhancers	Adipose Nuclei	Adipose
9	chr2:48959800-48960400	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:48959800-48960800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:48959800-48961800	Enhancers	Fetal Kidney	kidney
12	chr2:48959800-48962400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:48960000-48960400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:48960000-48961000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:48960000-48961200	Enhancers	Fetal Stomach	stomach
16	chr2:48960000-48962000	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:48960200-48960600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:48960200-48960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:48960200-48961000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:48960200-48961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:48960200-48962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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