Variant report

Variant	rs30801
Chromosome Location	chr5:14391851-14391852
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11955578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11957060	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957857	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172149	0.91[EUR][1000 genomes]
rs13172877	0.91[EUR][1000 genomes]
rs13188746	0.87[EUR][1000 genomes]
rs13189406	0.91[EUR][1000 genomes]
rs13356126	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154151	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17304403	0.89[EUR][1000 genomes]
rs173947	1.00[ASN][1000 genomes]
rs185355	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs187190	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs187667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247136	0.98[ASN][1000 genomes]
rs247137	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs256412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256418	0.87[ASN][1000 genomes]
rs28343	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30606	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs30607	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs30608	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs30609	0.88[ASN][1000 genomes]
rs30610	0.86[ASN][1000 genomes]
rs30611	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs30766	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30767	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30768	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30772	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs30785	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30786	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30787	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs30788	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30789	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30793	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs30794	1.00[JPT][hapmap]
rs30795	1.00[JPT][hapmap]
rs30799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs30800	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860741	0.90[EUR][1000 genomes]
rs36077682	0.89[EUR][1000 genomes]
rs378369	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389729	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40278	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42206	1.00[ASN][1000 genomes]
rs42404	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs42555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434279	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4702029	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs71614085	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr5:14354600-14402400	Strong transcription	Liver	Liver
4	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
5	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
7	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
8	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:14366000-14392400	Strong transcription	HSMM	muscle
14	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:14367400-14399800	Strong transcription	Left Ventricle	heart
16	chr5:14372400-14398600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:14374400-14392000	Strong transcription	NHEK	skin
18	chr5:14374400-14397000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:14374400-14399600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:14374600-14392200	Strong transcription	HMEC	breast
21	chr5:14375800-14396200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:14376200-14392600	Strong transcription	NHDF-Ad	bronchial
23	chr5:14376800-14392200	Strong transcription	NHLF	lung
24	chr5:14377000-14396200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr5:14377800-14392400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:14377800-14392600	Strong transcription	HepG2	liver
27	chr5:14378000-14392000	Strong transcription	Aorta	Aorta
28	chr5:14380400-14402800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr5:14380800-14396200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:14381200-14392200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr5:14383600-14396800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:14384200-14392400	Strong transcription	HUVEC	blood vessel
33	chr5:14385600-14399000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:14386400-14399600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:14386600-14392000	Strong transcription	Right Ventricle	heart
36	chr5:14386800-14392000	Strong transcription	Fetal Thymus	thymus
37	chr5:14386800-14398600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:14387000-14392000	Strong transcription	Spleen	Spleen
39	chr5:14387000-14392200	Strong transcription	Primary T cells from cord blood	blood
40	chr5:14387000-14392200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:14387000-14396000	Strong transcription	Hela-S3	cervix
42	chr5:14387200-14392800	Strong transcription	Brain Germinal Matrix	brain
43	chr5:14387200-14397800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:14387200-14398600	Strong transcription	A549	lung
45	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:14387600-14392000	Strong transcription	Colon Smooth Muscle	Colon
47	chr5:14387600-14392200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr5:14387600-14392400	Strong transcription	Placenta	Placenta
49	chr5:14387600-14392400	Strong transcription	NH-A	brain
50	chr5:14387600-14396400	Strong transcription	Osteobl	bone

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