Variant report

Variant	rs10845530
Chromosome Location	chr12:12542432-12542433
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1019340	0.88[CHB][hapmap]
rs1030069	0.82[CHB][hapmap]
rs10459098	0.88[CHB][hapmap]
rs10743982	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10743983	0.91[ASN][1000 genomes]
rs10743984	0.81[CEU][hapmap]
rs10772566	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs10772567	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs10845539	0.88[CHB][hapmap]
rs10845544	0.87[CHB][hapmap]
rs10845545	0.89[CHB][hapmap]
rs10845546	0.89[CHB][hapmap]
rs11561172	0.85[CHB][hapmap]
rs11609375	0.81[CHB][hapmap]
rs16907990	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2160586	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs2216264	0.89[CHB][hapmap]
rs3925170	0.88[CHB][hapmap]
rs4763825	0.88[CHB][hapmap]
rs4763829	0.88[CHB][hapmap]
rs4763830	0.81[CHB][hapmap]
rs7295080	0.88[CHB][hapmap]
rs73061463	0.81[ASN][1000 genomes]
rs7309503	0.88[CHB][hapmap]
rs7310012	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7311363	0.82[ASN][1000 genomes]
rs7311364	0.88[CHB][hapmap]
rs7313825	0.81[CHB][hapmap]
rs7953025	0.88[CHB][hapmap]
rs7967111	0.88[CHB][hapmap]
rs7967230	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs7967466	0.89[CHB][hapmap]
rs7969849	0.88[CHB][hapmap]
rs888200	0.94[CHB][hapmap]
rs9645752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	17 gene(s)	inside rSNPs	diseases
5	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv1049869	chr12:12519319-12542868	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv2760275	chr12:12530073-12546759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv437141	chr12:12530718-12544266	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3483107	chr12:12531330-12542599	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3483096	chr12:12531345-12542593	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3483118	chr12:12531345-12542593	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3483085	chr12:12531375-12542582	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv557593	chr12:12532984-12543233	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv818895	chr12:12532984-12544266	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv517152	chr12:12532984-12547645	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1041842	chr12:12536207-12546747	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv557597	chr12:12537608-12543233	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv557599	chr12:12537838-12543233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv557603	chr12:12538410-12543233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv557606	chr12:12540376-12543233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12511600-12550600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:12512000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:12519200-12549800	Weak transcription	Aorta	Aorta
4	chr12:12521800-12542800	Weak transcription	Adipose Nuclei	Adipose
5	chr12:12521800-12556200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:12525400-12550200	Weak transcription	Fetal Stomach	stomach
7	chr12:12526400-12558800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:12532800-12556400	Weak transcription	Spleen	Spleen
9	chr12:12533000-12542800	Weak transcription	Placenta	Placenta
10	chr12:12533000-12545800	Weak transcription	Pancreas	Pancrea
11	chr12:12533400-12555800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:12533600-12555400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:12535400-12542800	Weak transcription	Right Ventricle	heart
14	chr12:12535400-12561400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:12535800-12542600	Weak transcription	Lung	lung
16	chr12:12537200-12576000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:12538200-12551000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:12538400-12545800	Weak transcription	Left Ventricle	heart
19	chr12:12538400-12548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:12538400-12549200	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:12538400-12550200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:12538400-12551600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:12538400-12552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:12538400-12555400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:12538400-12556200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:12538600-12561800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:12538800-12551400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:12539400-12546800	Weak transcription	Stomach Mucosa	stomach
29	chr12:12539600-12545200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:12539800-12545800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:12540200-12545000	Weak transcription	HepG2	liver
32	chr12:12540200-12545200	Weak transcription	Fetal Intestine Large	intestine
33	chr12:12540200-12560600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:12540600-12549400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:12540600-12556200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:12540800-12543600	Weak transcription	Thymus	Thymus
37	chr12:12540800-12543800	Weak transcription	Fetal Thymus	thymus
38	chr12:12540800-12550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:12540800-12551000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:12540800-12553800	Weak transcription	GM12878-XiMat	blood
41	chr12:12540800-12555400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:12541000-12543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:12541000-12543800	Weak transcription	K562	blood
44	chr12:12541000-12545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:12541000-12545000	Weak transcription	Fetal Lung	lung
46	chr12:12541000-12545200	Weak transcription	Fetal Heart	heart
47	chr12:12541000-12550000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:12541000-12550200	Weak transcription	Hela-S3	cervix
49	chr12:12541000-12550600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:12541000-12551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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