Variant report

Variant	rs12187383
Chromosome Location	chr5:37027258-37027259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37025436..37027538-chr5:37042888..37045586,2	K562	blood:
2	chr5:37014667..37016465-chr5:37026836..37029191,2	K562	blood:
3	chr5:37024346..37029453-chr5:37031923..37035955,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10941319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11743833	1.00[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11745128	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12153359	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188075	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12513653	0.94[EUR][1000 genomes]
rs12515518	0.88[MKK][hapmap]
rs12516349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12520272	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12520324	0.94[EUR][1000 genomes]
rs12520562	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12521488	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903365	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16903373	0.90[EUR][1000 genomes]
rs16903403	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16903413	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16903419	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16903427	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903429	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903442	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903466	0.94[ASN][1000 genomes]
rs16903469	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903477	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2365495	0.94[EUR][1000 genomes]
rs2365838	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3776588	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3822471	0.86[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.80[TSI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3849756	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56680779	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56999464	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60633925	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60643425	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60730034	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61638663	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62654863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv881592	chr5:36954812-37027258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv881136	chr5:36976160-37029885	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv597822	chr5:36997953-37147152	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv1803948	chr5:37016522-37047066	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
3	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
4	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
5	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:36991000-37064600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:36997600-37064600	Weak transcription	Esophagus	oesophagus
8	chr5:37001200-37066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:37005200-37041800	Weak transcription	Lung	lung
10	chr5:37009200-37049200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:37010200-37043600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:37010800-37064600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:37011000-37054400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:37012400-37064600	Weak transcription	Gastric	stomach
15	chr5:37014000-37033000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:37014200-37030400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr5:37014200-37032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:37014200-37032800	Strong transcription	Placenta	Placenta
19	chr5:37014200-37033000	Strong transcription	Liver	Liver
20	chr5:37014200-37033000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr5:37014200-37034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:37014200-37034800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:37014200-37035400	Strong transcription	Dnd41	blood
24	chr5:37014200-37036000	Strong transcription	Adipose Nuclei	Adipose
25	chr5:37014200-37066200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:37014200-37067200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:37014400-37032000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:37014400-37032400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:37014600-37029800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:37014600-37033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:37014600-37036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:37014800-37028000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:37014800-37029600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:37014800-37031600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:37014800-37032000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:37014800-37033000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:37014800-37033600	Strong transcription	Fetal Thymus	thymus
38	chr5:37014800-37036000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:37015200-37028000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:37015400-37030000	Strong transcription	Fetal Intestine Large	intestine
41	chr5:37015800-37027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:37015800-37028000	Strong transcription	Fetal Lung	lung
43	chr5:37015800-37028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:37016000-37027800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:37016000-37032400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:37016800-37034600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:37016800-37034600	Weak transcription	Brain Substantia Nigra	brain
48	chr5:37016800-37037600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:37017000-37032200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:37017000-37032800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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