Variant report

Variant	rs12659437
Chromosome Location	chr5:107697320-107697321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107697169..107698902-chr5:107715827..107718166,2	K562	blood:
2	chr5:107696918..107699388-chr5:107716914..107718993,2	K562	blood:
3	chr5:107695811..107698012-chr5:107701922..107703734,2	K562	blood:
4	chr5:107696924..107698880-chr5:107700620..107702301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10061044	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10515385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10515388	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11242664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12652237	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12652460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12652675	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12653027	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12653689	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12654140	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12657542	0.88[AFR][1000 genomes]
rs12658760	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12658885	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17161193	0.82[EUR][1000 genomes]
rs17385914	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17386492	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17386875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17387645	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17388244	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs17452357	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17452992	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2052463	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193972	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2416528	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4129424	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4364376	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55755463	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044682	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56855707	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58131807	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58212758	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58844678	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61603913	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6870480	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6880005	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6888190	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AFR][1000 genomes]
rs72791270	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73214528	0.85[ASN][1000 genomes]
rs73214536	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7703032	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7703347	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7704811	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7711717	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7724245	1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724860	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7724884	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7733036	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
2	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
4	chr5:107658600-107709200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:107659400-107700000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:107663800-107709400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107667600-107709200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:107668600-107706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:107668800-107699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:107669200-107708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:107669400-107700400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:107670000-107702400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:107675000-107709200	Weak transcription	Fetal Thymus	thymus
14	chr5:107675800-107700000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:107676800-107702400	Weak transcription	Fetal Kidney	kidney
16	chr5:107677400-107700800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:107677800-107700400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:107677800-107709200	Weak transcription	Ovary	ovary
19	chr5:107678400-107699800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:107679200-107706800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:107679600-107699800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:107679800-107705600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:107680000-107706800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:107680400-107707600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:107680800-107697400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:107681600-107699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:107682000-107703600	Weak transcription	Dnd41	blood
28	chr5:107683000-107703600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:107684400-107699800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:107684400-107702600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:107686200-107701000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:107688000-107702600	Weak transcription	Liver	Liver
33	chr5:107688000-107707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:107689000-107699800	Weak transcription	Primary B cells from cord blood	blood
35	chr5:107692000-107702400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:107692400-107702400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:107693000-107704600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:107693000-107706800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:107693600-107706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:107694200-107700000	Weak transcription	NHDF-Ad	bronchial
41	chr5:107694400-107703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:107694400-107706800	Weak transcription	GM12878-XiMat	blood
43	chr5:107695000-107702800	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:107695400-107700000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:107695800-107702200	Weak transcription	Small Intestine	intestine
46	chr5:107696400-107697800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:107696600-107700000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:107696600-107709200	Weak transcription	Fetal Lung	lung
49	chr5:107696800-107697800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:107696800-107701200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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