Variant report

Variant	rs493985
Chromosome Location	chr6:143149300-143149301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143148679..143151858-chr6:143163434..143166597,3	K562	blood:
2	chr6:143149262..143152050-chr6:143165097..143166681,2	K562	blood:
3	chr6:143146689..143151970-chr6:143152746..143156314,7	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1040439	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs198653	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs198657	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2142939	0.82[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs2328386	0.82[CEU][hapmap];0.89[ASN][1000 genomes]
rs2328387	0.82[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs573352	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592503	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752766	0.89[ASN][1000 genomes]
rs7763660	0.83[ASN][1000 genomes]
rs926372	0.82[CEU][hapmap];0.80[CHB][hapmap];0.93[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs9376711	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1019558	chr6:143121577-143154554	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143140400-143152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:143140800-143152000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:143141400-143152000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:143141600-143152200	Weak transcription	NH-A	brain
5	chr6:143141600-143153800	Weak transcription	HSMMtube	muscle
6	chr6:143142000-143153400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:143142200-143151600	Weak transcription	Osteobl	bone
8	chr6:143142200-143153400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:143142600-143153800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:143142600-143155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:143142800-143155000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:143143200-143153800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:143143400-143152000	Weak transcription	Gastric	stomach
14	chr6:143143400-143157400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:143143400-143159600	Weak transcription	HepG2	liver
16	chr6:143143400-143160600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:143143800-143151400	Weak transcription	Thymus	Thymus
18	chr6:143144000-143151800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:143144000-143152000	Weak transcription	Primary B cells from cord blood	blood
20	chr6:143144000-143153800	Weak transcription	HSMM	muscle
21	chr6:143144000-143165800	Weak transcription	Liver	Liver
22	chr6:143144200-143154200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:143144200-143156000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:143144600-143152000	Weak transcription	Pancreas	Pancrea
25	chr6:143144600-143163000	Weak transcription	Dnd41	blood
26	chr6:143144600-143163200	Weak transcription	Fetal Thymus	thymus
27	chr6:143144800-143162400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:143144800-143163000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:143144800-143166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:143145000-143150600	Weak transcription	GM12878-XiMat	blood
31	chr6:143145400-143149400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:143146000-143150800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:143146000-143151400	Weak transcription	Brain Substantia Nigra	brain
34	chr6:143146000-143151800	Weak transcription	Lung	lung
35	chr6:143146000-143152000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:143146000-143153600	Weak transcription	NHLF	lung
37	chr6:143146000-143154000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:143146000-143154200	Weak transcription	Brain Anterior Caudate	brain
39	chr6:143146000-143156200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:143146200-143151800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:143146200-143152000	Weak transcription	Right Ventricle	heart
42	chr6:143146600-143151000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:143146600-143151200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:143146600-143151800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:143146600-143151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:143146600-143152000	Weak transcription	Aorta	Aorta
47	chr6:143146600-143152000	Weak transcription	Fetal Stomach	stomach
48	chr6:143146600-143153800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:143146600-143153800	Weak transcription	Small Intestine	intestine
50	chr6:143147200-143149400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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