Variant report

Variant	rs12528683
Chromosome Location	chr6:144978340-144978341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10434891	0.83[ASN][1000 genomes]
rs12663692	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13207026	0.81[ASN][1000 genomes]
rs13218121	0.81[ASN][1000 genomes]
rs2328596	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4568467	0.85[ASN][1000 genomes]
rs56185703	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61336829	0.80[ASN][1000 genomes]
rs7753246	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9390185	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390186	0.89[ASN][1000 genomes]
rs9399487	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403570	0.81[ASN][1000 genomes]
rs9403575	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9403577	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription 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	8 gene(s)	inside rSNPs	diseases
4	nsv604822	chr6:144968195-145001887	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144949200-144980200	Weak transcription	Fetal Thymus	thymus
2	chr6:144961400-144978600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:144962800-144980200	Weak transcription	Ovary	ovary
4	chr6:144965600-144982400	Weak transcription	HSMM	muscle
5	chr6:144967000-144978600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:144967200-144982000	Weak transcription	HSMMtube	muscle
7	chr6:144967800-144980400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:144968200-144982000	Weak transcription	Brain Germinal Matrix	brain
9	chr6:144969400-144978800	Weak transcription	Pancreas	Pancrea
10	chr6:144971800-144978800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:144973600-144978800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:144973600-144980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144973600-144980400	Weak transcription	Colonic Mucosa	Colon
14	chr6:144974000-144980200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:144974800-144978400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144975000-144978800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:144975000-144978800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:144975200-144978800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:144975400-144978400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:144975400-144978600	Weak transcription	NH-A	brain
21	chr6:144975400-144980200	Weak transcription	Stomach Mucosa	stomach
22	chr6:144975400-144980400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:144975600-144978600	Weak transcription	Small Intestine	intestine
24	chr6:144975600-144978800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:144975600-144979800	Weak transcription	Primary T cells from cord blood	blood
26	chr6:144975600-144980000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:144975600-144980000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:144975600-144980200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:144975600-144980400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:144975600-144980400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:144975600-144981000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:144975800-144978400	Weak transcription	Fetal Intestine Small	intestine
33	chr6:144975800-144978600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:144975800-144979200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:144975800-144980000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:144975800-144980000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr6:144975800-144980000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:144975800-144980200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:144976000-144980200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:144976000-144980200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:144976000-144980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:144976000-144980400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:144976000-144980600	Weak transcription	Fetal Stomach	stomach
44	chr6:144976600-144978600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:144976600-144978800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:144976600-144978800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:144976600-144979600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:144976600-144980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:144976600-144980200	Weak transcription	Fetal Lung	lung
50	chr6:144976600-144980200	Weak transcription	NHDF-Ad	bronchial

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