Variant report

Variant	rs12055513
Chromosome Location	chr6:38321529-38321530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38320964..38322819-chr6:38346765..38349373,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484930	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs12524225	0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12660323	0.82[CHD][hapmap]
rs12664994	0.81[JPT][hapmap]
rs16890552	0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs16890561	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2395697	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4711531	0.82[CHD][hapmap]
rs4714139	0.82[CHD][hapmap]
rs4714145	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs57575973	0.95[ASN][1000 genomes]
rs57934228	0.81[ASN][1000 genomes]
rs59459724	0.87[ASN][1000 genomes]
rs6917308	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6938840	0.87[ASW][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs714930	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs73422824	0.82[ASN][1000 genomes]
rs73422833	0.82[ASN][1000 genomes]
rs764347	0.82[CHB][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7771835	1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs871182	0.84[ASN][1000 genomes]
rs871184	0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs9349065	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs9349069	0.96[ASN][1000 genomes]
rs9349071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9366956	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9369046	0.84[ASN][1000 genomes]
rs9369047	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs9369050	0.91[ASN][1000 genomes]
rs9369052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9380734	0.85[ASN][1000 genomes]
rs9380735	0.96[ASN][1000 genomes]
rs9380736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9394487	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs9394491	0.88[ASN][1000 genomes]

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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv602957	chr6:38305770-38395874	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38285000-38327800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:38301600-38324600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:38304600-38323000	Weak transcription	Ovary	ovary
4	chr6:38309800-38323400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:38310800-38326000	Weak transcription	Lung	lung
6	chr6:38311400-38322000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:38312000-38326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:38313800-38325800	Weak transcription	Psoas Muscle	Psoas
9	chr6:38313800-38331200	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38314800-38325800	Weak transcription	Right Atrium	heart
11	chr6:38315200-38325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:38315800-38339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:38316600-38321600	Weak transcription	Fetal Brain Female	brain
14	chr6:38316600-38322400	Weak transcription	Brain Angular Gyrus	brain
15	chr6:38316800-38322800	Weak transcription	Brain Substantia Nigra	brain
16	chr6:38318000-38322400	Weak transcription	Fetal Brain Male	brain
17	chr6:38318200-38324600	Weak transcription	Small Intestine	intestine
18	chr6:38319000-38322400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:38319200-38322400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:38319200-38322600	Weak transcription	Adipose Nuclei	Adipose
21	chr6:38319200-38322600	Weak transcription	Brain Anterior Caudate	brain
22	chr6:38319200-38322800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:38319200-38322800	Weak transcription	Osteobl	bone
24	chr6:38319200-38323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:38319200-38323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:38319200-38325400	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:38319200-38325600	Weak transcription	Fetal Stomach	stomach
28	chr6:38319200-38327200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:38319200-38334200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:38319400-38322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:38320000-38325400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:38320200-38321800	Enhancers	NHDF-Ad	bronchial
33	chr6:38320200-38322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:38320200-38322800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:38320800-38323800	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:38321000-38321600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:38321200-38322800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:38321400-38321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:38321400-38323400	Enhancers	Primary B cells from peripheral blood	blood

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