Variant report

Variant	rs375724657
Chromosome Location	chr2:231177352-231177353
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	chr2:231176097..231178034-chr2:231181270..231184101,2	MCF-7	breast:
2	chr2:231177190..231178996-chr2:231181299..231183714,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875944	chr2:231162998-231189047	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:231153800-231183400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:231162600-231180800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:231165400-231180200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:231165400-231181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:231165800-231181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:231172400-231180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:231174200-231179600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:231174400-231182000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:231175000-231177400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:231175000-231177400	Weak transcription	Spleen	Spleen
12	chr2:231175000-231183800	Weak transcription	HMEC	breast
13	chr2:231175400-231177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:231175400-231177400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:231175400-231180200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:231175400-231182000	Weak transcription	Lung	lung
17	chr2:231176000-231181000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:231176400-231177400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:231176800-231177400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:231176800-231179000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:231177200-231177600	Enhancers	HSMMtube	muscle
22	chr2:231177200-231177800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:231177200-231177800	Enhancers	HSMM	muscle
24	chr2:231177200-231177800	Enhancers	NH-A	brain
25	chr2:231177200-231177800	Enhancers	NHEK	skin
26	chr2:231177200-231178000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:231177200-231178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:231177200-231178800	Strong transcription	GM12878-XiMat	blood
29	chr2:231177200-231179200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:231177200-231179800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:231177200-231180400	Strong transcription	Primary T cells fromperipheralblood	blood

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