Variant report

Variant	rs561816485
Chromosome Location	chr7:48029842-48029843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48029675..48031702-chr7:48142721..48144419,2	MCF-7	breast:
2	chr7:48017886..48020914-chr7:48029520..48034474,4	K562	blood:

Variant related genes	Relation type
ENSG00000183696	Chromatin interaction
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48019800-48031600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:48023200-48031200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:48024200-48030800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:48028400-48031200	Enhancers	HepG2	liver
5	chr7:48028600-48030000	Enhancers	Fetal Intestine Large	intestine
6	chr7:48028800-48030000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:48028800-48030000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:48028800-48030800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:48029000-48030800	Weak transcription	A549	lung
10	chr7:48029000-48031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:48029000-48031200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:48029000-48031200	Weak transcription	Fetal Lung	lung
13	chr7:48029400-48030200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:48029400-48030200	Enhancers	Placenta	Placenta
15	chr7:48029400-48030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:48029600-48030000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:48029600-48030200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:48029800-48030000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:48029800-48030000	Enhancers	Fetal Intestine Small	intestine
20	chr7:48029800-48030400	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:48029800-48031000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:48029800-48031200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:48029800-48031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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