Variant report

Variant	rs3814991
Chromosome Location	chr7:18634903-18634904
allele	C/T
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]
rs10486291	0.80[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes]
rs10486292	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12669789	0.94[MEX][hapmap]
rs1554772	0.88[MKK][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1633787	0.80[AMR][1000 genomes]
rs17139630	0.84[MEX][hapmap]
rs1726599	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2023651	0.81[GIH][hapmap]
rs2157847	0.84[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2269747	0.87[AMR][1000 genomes]
rs2269752	0.84[MEX][hapmap]
rs2285433	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2285440	0.84[MEX][hapmap]
rs4484585	0.84[MEX][hapmap]
rs4719535	0.86[AMR][1000 genomes]
rs73063104	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73063123	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73063125	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73063139	0.87[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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18614600-18640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18614600-18640400	Weak transcription	Spleen	Spleen
3	chr7:18614600-18644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:18617000-18640400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:18618400-18641000	Weak transcription	Psoas Muscle	Psoas
6	chr7:18621000-18640800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:18621000-18641200	Weak transcription	Right Ventricle	heart
8	chr7:18621200-18638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:18621200-18640200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:18621200-18646800	Weak transcription	HSMM	muscle
11	chr7:18621400-18639000	Weak transcription	Fetal Brain Female	brain
12	chr7:18621400-18641000	Weak transcription	Brain Anterior Caudate	brain
13	chr7:18621800-18643600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:18622000-18641000	Weak transcription	Brain Substantia Nigra	brain
15	chr7:18622600-18638400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:18623800-18640200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:18625400-18636400	Weak transcription	Fetal Heart	heart
18	chr7:18627400-18639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:18628000-18640800	Weak transcription	HMEC	breast
20	chr7:18628600-18640400	Weak transcription	NHEK	skin
21	chr7:18629400-18637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:18629600-18635000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:18630000-18638600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:18630000-18640400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:18630200-18636200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:18630200-18640000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:18630200-18640400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:18630400-18635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:18630400-18640000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:18630600-18637400	Weak transcription	NHDF-Ad	bronchial
31	chr7:18630600-18640400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:18631000-18640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:18631600-18640200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:18631800-18636600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:18632000-18640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:18632000-18640800	Weak transcription	NH-A	brain
37	chr7:18633000-18637000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:18633000-18640600	Weak transcription	Osteobl	bone
39	chr7:18633000-18645400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:18633600-18635000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:18633800-18635000	Weak transcription	Primary B cells from cord blood	blood
42	chr7:18633800-18635600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:18633800-18636000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:18633800-18636200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:18633800-18637400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:18633800-18638400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:18633800-18639000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:18633800-18639800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:18633800-18640000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:18633800-18640200	Strong transcription	Primary B cells from peripheral blood	blood

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