Variant report

Variant	rs10248115
Chromosome Location	chr7:48079395-48079396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3367673	chr7:48079288-48079468	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3441070	chr7:48079308-48079438	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1442438	chr7:48079346-48079418	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48076200-48079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:48076200-48079600	Weak transcription	HMEC	breast
3	chr7:48076200-48079600	Weak transcription	NHEK	skin
4	chr7:48076200-48080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:48076200-48080800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:48078000-48080000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:48078000-48081000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:48078400-48080000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:48078600-48079800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:48078600-48083200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:48078800-48079400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:48078800-48081600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:48078800-48083000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:48079000-48079400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:48079000-48079800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:48079000-48080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:48079200-48079400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:48079200-48079600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:48079200-48081800	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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