Variant report

Variant	rs58376035
Chromosome Location	chr14:72057098-72057099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55647033	1.00[AMR][1000 genomes]
rs55843519	1.00[AMR][1000 genomes]
rs55893880	1.00[AMR][1000 genomes]
rs56135446	1.00[AMR][1000 genomes]
rs56335120	1.00[AMR][1000 genomes]
rs56861516	1.00[AMR][1000 genomes]
rs57476769	1.00[AMR][1000 genomes]
rs58529740	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59405734	1.00[AMR][1000 genomes]
rs60239886	1.00[AMR][1000 genomes]
rs60600157	1.00[AMR][1000 genomes]
rs74060369	1.00[AMR][1000 genomes]
rs74060373	1.00[AMR][1000 genomes]
rs74060376	1.00[AMR][1000 genomes]
rs74060385	1.00[AMR][1000 genomes]
rs74060386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060387	1.00[AMR][1000 genomes]
rs74060390	1.00[AMR][1000 genomes]
rs74060391	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72039400-72064400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:72042000-72058400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:72042000-72058600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:72042000-72058800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:72042000-72069400	Weak transcription	Lung	lung
6	chr14:72042200-72058400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:72042200-72058600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:72042200-72058600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:72043400-72059200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:72049800-72063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:72050200-72058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:72050200-72058800	Weak transcription	Small Intestine	intestine
13	chr14:72051600-72061600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:72053000-72057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:72053000-72058000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:72053000-72058600	Weak transcription	Thymus	Thymus
17	chr14:72053200-72058600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:72053200-72058600	Weak transcription	Stomach Mucosa	stomach
19	chr14:72053200-72058800	Weak transcription	Left Ventricle	heart
20	chr14:72053200-72059200	Weak transcription	Right Ventricle	heart
21	chr14:72053200-72061600	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:72053400-72058600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:72053400-72058800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:72053400-72059200	Weak transcription	Fetal Intestine Large	intestine
25	chr14:72053400-72061600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:72053400-72061600	Weak transcription	Fetal Stomach	stomach
27	chr14:72053400-72064400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:72053400-72066400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:72053400-72066600	Weak transcription	Adipose Nuclei	Adipose
30	chr14:72053400-72070200	Weak transcription	Fetal Intestine Small	intestine
31	chr14:72053400-72098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:72053600-72058800	Weak transcription	Aorta	Aorta
33	chr14:72053600-72058800	Weak transcription	Spleen	Spleen
34	chr14:72053600-72059600	Active TSS	Fetal Brain Female	brain
35	chr14:72053600-72061600	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:72053600-72062400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:72053600-72064600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:72053600-72066000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:72053600-72066200	Weak transcription	Liver	Liver
40	chr14:72053600-72066600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:72053600-72068000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:72053800-72058200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:72053800-72059400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:72053800-72061600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:72053800-72061800	Weak transcription	Fetal Kidney	kidney
46	chr14:72054000-72058400	Weak transcription	Fetal Heart	heart
47	chr14:72054000-72058600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:72054000-72058800	Weak transcription	Fetal Lung	lung
49	chr14:72054000-72061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr14:72054400-72057200	Enhancers	Brain Cingulate Gyrus	brain

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