Variant report

Variant	rs4951587
Chromosome Location	chr1:212493494-212493495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12410664	0.80[AMR][1000 genomes]
rs2298114	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS 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 target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers 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	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3404722	chr1:212493354-212496202	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4951587	TMEM206	cis	Esophagus Mucosa	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
2	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:212467400-212526000	Weak transcription	A549	lung
5	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212478200-212495800	Weak transcription	Fetal Thymus	thymus
7	chr1:212479200-212525400	Weak transcription	Aorta	Aorta
8	chr1:212484000-212503000	Weak transcription	Fetal Stomach	stomach
9	chr1:212484000-212506600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212484200-212507000	Weak transcription	HepG2	liver
11	chr1:212484400-212496200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:212484400-212502800	Weak transcription	Thymus	Thymus
13	chr1:212484400-212506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:212484600-212507200	Weak transcription	Right Ventricle	heart
15	chr1:212484800-212503000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:212486000-212504000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:212486000-212507000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:212486200-212526000	Weak transcription	HUVEC	blood vessel
19	chr1:212486600-212502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:212486600-212506800	Weak transcription	Ovary	ovary
21	chr1:212486800-212503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:212487200-212506600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:212487800-212502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:212488000-212502600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:212489000-212502400	Weak transcription	GM12878-XiMat	blood
26	chr1:212489400-212495600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:212489600-212495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:212489600-212496200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:212489600-212500800	Weak transcription	Pancreas	Pancrea
30	chr1:212489600-212502000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:212489600-212506800	Weak transcription	NHDF-Ad	bronchial
32	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
33	chr1:212489800-212495800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:212489800-212500800	Weak transcription	Left Ventricle	heart
35	chr1:212489800-212503400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:212489800-212505400	Weak transcription	Fetal Lung	lung
37	chr1:212489800-212506800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:212489800-212506800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:212490000-212507800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:212490400-212495600	Weak transcription	Primary T cells from cord blood	blood
41	chr1:212490600-212494000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:212490600-212495800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:212491000-212495600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:212491000-212495800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:212491600-212502800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:212491800-212502600	Weak transcription	Hela-S3	cervix
47	chr1:212492000-212496200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:212492200-212495800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:212492400-212506800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:212492600-212493600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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