Variant report

Variant	rs197496
Chromosome Location	chr6:143107316-143107317
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs174741	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197498	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197499	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197500	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197501	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197502	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197503	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs197505	0.83[ASN][1000 genomes]
rs197507	0.83[ASN][1000 genomes]
rs197508	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs197509	0.83[ASN][1000 genomes]
rs197510	0.80[ASN][1000 genomes]
rs197511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs516300	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]
rs576657	0.87[JPT][hapmap];0.82[YRI][hapmap]
rs9496464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143094800-143109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:143095800-143117600	Weak transcription	Fetal Lung	lung
3	chr6:143095800-143122200	Weak transcription	NHEK	skin
4	chr6:143096000-143108000	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:143096000-143108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:143096000-143111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:143096000-143117800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:143096200-143107600	Weak transcription	Left Ventricle	heart
10	chr6:143096200-143107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:143096200-143108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:143096200-143108000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:143096200-143120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:143096200-143140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:143102800-143107400	Weak transcription	NH-A	brain
16	chr6:143103000-143107400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:143103200-143107800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:143103200-143107800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:143103600-143117600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr6:143103600-143124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:143103800-143107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:143103800-143125400	Weak transcription	Fetal Thymus	thymus
23	chr6:143104600-143113200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:143105400-143107400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:143105600-143107800	Weak transcription	HSMM	muscle
26	chr6:143105800-143107400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:143105800-143107400	Weak transcription	Osteobl	bone
28	chr6:143105800-143107600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:143105800-143108200	Weak transcription	Aorta	Aorta
30	chr6:143105800-143111400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:143105800-143112000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:143105800-143121000	Weak transcription	Brain Angular Gyrus	brain
33	chr6:143105800-143140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:143106000-143111400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:143106000-143118800	Weak transcription	Primary B cells from cord blood	blood
36	chr6:143106000-143128200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:143106000-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:143106200-143112000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:143106200-143116800	Weak transcription	GM12878-XiMat	blood
40	chr6:143106800-143108600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:143106800-143110800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:143107000-143107400	Weak transcription	NHDF-Ad	bronchial
43	chr6:143107000-143107800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:143107000-143108200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:143107000-143108600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:143107000-143110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:143107000-143111200	Weak transcription	Primary T cells from cord blood	blood
48	chr6:143107000-143111600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:143107200-143107400	Enhancers	Brain Substantia Nigra	brain
50	chr6:143107200-143108000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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