Variant report

Variant	rs1339195
Chromosome Location	chr6:128639407-128639408
allele	A/G
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:17)

rs_ID	r²[population]
rs1339190	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1556886	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1738272	0.81[YRI][hapmap];0.92[AFR][1000 genomes]
rs1890544	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2326681	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4897254	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs6914789	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6922127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596689	0.83[AFR][1000 genomes]
rs7738641	0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs7742250	0.81[YRI][hapmap];0.92[AFR][1000 genomes]
rs7745739	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7774819	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs9388630	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9402034	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
2	chr6:128609000-128646000	Weak transcription	NH-A	brain
3	chr6:128610800-128643200	Weak transcription	NHEK	skin
4	chr6:128613200-128640800	Weak transcription	HepG2	liver
5	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
6	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:128627800-128642800	Weak transcription	HSMM	muscle
11	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128631400-128645200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:128631600-128648600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128631800-128641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:128631800-128649000	Weak transcription	Aorta	Aorta
16	chr6:128632000-128644800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:128632000-128649000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:128632000-128650600	Weak transcription	Psoas Muscle	Psoas
19	chr6:128632000-128650800	Weak transcription	Right Ventricle	heart
20	chr6:128632000-128658000	Weak transcription	Ovary	ovary
21	chr6:128632200-128665200	Weak transcription	Gastric	stomach
22	chr6:128633400-128641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:128633600-128641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:128633600-128649000	Weak transcription	Fetal Thymus	thymus
25	chr6:128634000-128641800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:128634400-128640600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:128634600-128641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:128635800-128639600	Weak transcription	Fetal Heart	heart
30	chr6:128635800-128654200	Weak transcription	Liver	Liver
31	chr6:128636000-128643400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:128636200-128640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:128637600-128640200	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:128637600-128641200	Weak transcription	Brain Angular Gyrus	brain
35	chr6:128637600-128641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:128637800-128640200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:128637800-128645000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:128638200-128641200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:128638400-128640400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:128638600-128641200	Weak transcription	Brain Substantia Nigra	brain
41	chr6:128638800-128642000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr6:128639000-128660600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:128639000-128660800	Weak transcription	Small Intestine	intestine
44	chr6:128639200-128644800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:128639400-128639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:128639400-128640400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:128639400-128641200	Weak transcription	Brain Anterior Caudate	brain
48	chr6:128639400-128648800	Weak transcription	HUVEC	blood vessel

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