Variant report

Variant	rs12973606
Chromosome Location	chr19:43060228-43060229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34786088	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43056600-43060800	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:43057200-43060600	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:43057400-43060400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:43057600-43062800	Weak transcription	Ovary	ovary
6	chr19:43058800-43061200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr19:43059000-43060400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:43059000-43060400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:43059000-43060600	Enhancers	Placenta	Placenta
10	chr19:43059200-43060400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:43059200-43060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:43059400-43060400	Enhancers	Fetal Stomach	stomach
13	chr19:43059400-43060400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr19:43059400-43061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:43059400-43063200	Enhancers	HepG2	liver
16	chr19:43059600-43060400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:43059600-43060600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:43059800-43060400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr19:43059800-43060600	Enhancers	Primary B cells from cord blood	blood
20	chr19:43059800-43064000	Weak transcription	Esophagus	oesophagus
21	chr19:43060000-43060600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr19:43060000-43062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:43060200-43060400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:43060200-43060400	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr19:43060200-43061800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:43060200-43062000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:43060200-43062000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:43060200-43062600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:43060200-43062600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:43060200-43062600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:43060200-43064200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:43060200-43067600	Weak transcription	Adipose Nuclei	Adipose

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