Variant report

Variant	rs563301758
Chromosome Location	chr2:12007864-12007865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508710	chr2:11982971-12028555	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2611	chr2:12007152-12052170	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12003200-12009600	Weak transcription	Right Atrium	heart
2	chr2:12004200-12012600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:12004400-12008200	Weak transcription	NHEK	skin
4	chr2:12004400-12012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:12004400-12012800	Weak transcription	Esophagus	oesophagus
6	chr2:12004400-12012800	Weak transcription	Stomach Mucosa	stomach
7	chr2:12004400-12015400	Weak transcription	Gastric	stomach
8	chr2:12004600-12008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:12004600-12008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:12004600-12009600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:12004600-12010000	Weak transcription	Fetal Heart	heart
12	chr2:12004600-12012800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:12004800-12009200	Weak transcription	NH-A	brain
14	chr2:12004800-12010000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:12005000-12009600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:12005000-12009600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:12005000-12013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:12005800-12010800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:12006400-12008200	Weak transcription	Spleen	Spleen
20	chr2:12006400-12010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:12006800-12010800	Weak transcription	Primary B cells from cord blood	blood
22	chr2:12007400-12008000	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:12007600-12012600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:12007800-12008200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:12007800-12008600	Enhancers	HMEC	breast
26	chr2:12007800-12008600	Flanking Active TSS	K562	blood

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