Variant report

Variant	rs964179
Chromosome Location	chr6:128735626-128735627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12055766	0.86[JPT][hapmap]
rs1339191	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1339193	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1339197	0.80[JPT][hapmap]
rs3822945	0.89[CHB][hapmap]
rs4085784	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs4296904	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57546390	0.84[AMR][1000 genomes]
rs6934873	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744436	0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes]
rs9372889	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9385457	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388629	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes]
rs9402037	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9491939	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs953549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
2	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
4	chr6:128710200-128739800	Weak transcription	Fetal Intestine Large	intestine
5	chr6:128715600-128743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:128715800-128736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:128716600-128736000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:128716600-128739400	Weak transcription	Aorta	Aorta
9	chr6:128716800-128738400	Weak transcription	Fetal Heart	heart
10	chr6:128717200-128739600	Weak transcription	NH-A	brain
11	chr6:128722000-128738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:128722400-128740000	Weak transcription	Right Ventricle	heart
13	chr6:128728000-128736000	Weak transcription	Fetal Kidney	kidney
14	chr6:128728200-128739000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:128728400-128738800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:128728600-128739400	Weak transcription	Fetal Intestine Small	intestine
17	chr6:128728600-128742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:128728800-128736200	Weak transcription	HepG2	liver
19	chr6:128728800-128748000	Weak transcription	Ovary	ovary
20	chr6:128731000-128753400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:128732200-128738800	Weak transcription	Osteobl	bone
22	chr6:128732200-128739000	Weak transcription	Fetal Thymus	thymus
23	chr6:128732400-128739400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:128732400-128739400	Weak transcription	Left Ventricle	heart
25	chr6:128732400-128752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:128732800-128742800	Weak transcription	Brain Angular Gyrus	brain
27	chr6:128734000-128736200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:128734200-128748400	Weak transcription	Gastric	stomach
29	chr6:128734400-128736000	Weak transcription	Brain Anterior Caudate	brain
30	chr6:128734400-128736200	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:128734400-128738800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:128734600-128736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:128734600-128737000	Enhancers	Liver	Liver
34	chr6:128734600-128739400	Weak transcription	HSMM	muscle
35	chr6:128734800-128739400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:128734800-128742800	Weak transcription	Fetal Lung	lung
37	chr6:128735600-128736000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:128735600-128736000	Weak transcription	Small Intestine	intestine
39	chr6:128735600-128736800	Enhancers	HSMMtube	muscle
40	chr6:128735600-128739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:128735600-128743400	Weak transcription	NHEK	skin

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