Variant report

Variant	rs4714137
Chromosome Location	chr6:38230123-38230124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10484933	0.84[AMR][1000 genomes]
rs12524219	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12526138	1.00[AFR][1000 genomes]
rs12529300	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12529640	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16890465	0.84[AMR][1000 genomes]
rs16890468	0.90[AMR][1000 genomes]
rs16890511	0.90[AMR][1000 genomes]
rs16890522	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711526	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4711530	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4714127	1.00[AFR][1000 genomes]
rs4714135	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4714142	1.00[AFR][1000 genomes]
rs62397004	0.81[AMR][1000 genomes]
rs62397007	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62397011	0.90[AMR][1000 genomes]
rs62397015	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6929505	0.84[AMR][1000 genomes]
rs7739762	0.80[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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:38208200-38236600	Weak transcription	Gastric	stomach
3	chr6:38208200-38255000	Weak transcription	Ovary	ovary
4	chr6:38213400-38232400	Weak transcription	Right Ventricle	heart
5	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:38218800-38232200	Weak transcription	Small Intestine	intestine
7	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:38220600-38241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:38222000-38234600	Weak transcription	Esophagus	oesophagus
10	chr6:38222600-38232400	Weak transcription	Lung	lung
11	chr6:38223000-38231600	Weak transcription	Fetal Intestine Large	intestine
12	chr6:38223600-38256000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:38224400-38239000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:38224400-38267600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:38224600-38230200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:38224600-38231800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:38224600-38255200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:38224800-38256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:38225000-38255800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:38225200-38238600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:38225800-38238400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:38225800-38239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:38226400-38258000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:38226600-38256600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:38226600-38257000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:38226800-38231000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:38226800-38231000	Enhancers	NHEK	skin
28	chr6:38227000-38230800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:38227000-38231800	Enhancers	HMEC	breast
30	chr6:38227400-38231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:38228800-38230800	Enhancers	Left Ventricle	heart
32	chr6:38228800-38232800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:38228800-38233000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:38229000-38233000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:38229000-38233200	Enhancers	Brain Substantia Nigra	brain
36	chr6:38229200-38230800	Enhancers	Adipose Nuclei	Adipose
37	chr6:38229200-38231000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:38229400-38230200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr6:38229400-38230200	Enhancers	HepG2	liver
40	chr6:38229400-38230400	Enhancers	Colon Smooth Muscle	Colon
41	chr6:38229400-38230400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:38229400-38230400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr6:38229400-38230400	Enhancers	Fetal Stomach	stomach
44	chr6:38229400-38230600	Flanking Active TSS	HSMMtube	muscle
45	chr6:38229400-38230800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:38229400-38230800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:38229400-38230800	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:38229400-38230800	Enhancers	Right Atrium	heart
49	chr6:38229400-38230800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:38229400-38230800	Flanking Active TSS	NH-A	brain

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