Variant report

Variant	rs1738272
Chromosome Location	chr6:128631504-128631505
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[AFR][1000 genomes]
rs1339192	0.94[AFR][1000 genomes]
rs1339194	0.94[AFR][1000 genomes]
rs1339195	0.81[YRI][hapmap];0.92[AFR][1000 genomes]
rs1556886	0.81[YRI][hapmap];0.96[AFR][1000 genomes]
rs1738295	1.00[AMR][1000 genomes]
rs1890544	0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs2326681	0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs4897254	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6914789	0.81[YRI][hapmap];0.94[AFR][1000 genomes]
rs6922127	0.94[AFR][1000 genomes]
rs7738641	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742250	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7745739	0.93[YRI][hapmap];0.94[AFR][1000 genomes]
rs7774819	0.94[AFR][1000 genomes]
rs9388630	0.81[YRI][hapmap];0.90[AFR][1000 genomes]
rs9402034	0.81[YRI][hapmap];0.94[AFR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
2	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
3	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
4	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
5	chr6:128609000-128646000	Weak transcription	NH-A	brain
6	chr6:128610800-128643200	Weak transcription	NHEK	skin
7	chr6:128613200-128640800	Weak transcription	HepG2	liver
8	chr6:128621800-128649000	Weak transcription	HSMMtube	muscle
9	chr6:128625200-128642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:128626000-128631800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:128626000-128643000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:128626200-128631600	Weak transcription	Lung	lung
13	chr6:128626200-128645800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:128626600-128641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:128627800-128642800	Weak transcription	HSMM	muscle
16	chr6:128627800-128649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:128628000-128631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:128629200-128632800	Weak transcription	NHDF-Ad	bronchial
19	chr6:128629800-128632200	Enhancers	Gastric	stomach
20	chr6:128630400-128632000	Enhancers	Brain Hippocampus Middle	brain
21	chr6:128630600-128631800	Enhancers	Brain Substantia Nigra	brain
22	chr6:128630600-128632000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:128630600-128632200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:128630600-128632800	Enhancers	Fetal Heart	heart
25	chr6:128630600-128635000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:128631000-128632000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:128631000-128632200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:128631200-128631800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:128631200-128631800	Enhancers	Stomach Mucosa	stomach
30	chr6:128631200-128632000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:128631200-128632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:128631200-128632000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:128631200-128632000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:128631200-128632000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:128631200-128632000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:128631200-128632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:128631200-128632200	Enhancers	Brain Angular Gyrus	brain
38	chr6:128631200-128632200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:128631400-128631600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:128631400-128631600	Enhancers	Fetal Intestine Small	intestine
41	chr6:128631400-128631800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:128631400-128631800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:128631400-128632000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:128631400-128632000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:128631400-128632000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:128631400-128632000	Enhancers	Brain Anterior Caudate	brain
47	chr6:128631400-128632200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:128631400-128632600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:128631400-128645200	Weak transcription	Muscle Satellite Cultured Cells	--

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