Variant report

Variant	rs7193086
Chromosome Location	chr16:81949697-81949698
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11646679	0.93[ASN][1000 genomes]
rs12444459	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12446596	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs12596249	1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs12716924	0.86[CHB][hapmap]
rs12716926	0.83[CHB][hapmap]
rs12924579	0.97[ASN][1000 genomes]
rs13333420	0.93[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.93[ASN][1000 genomes]
rs16955980	0.91[ASN][1000 genomes]
rs17202296	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs34214092	0.81[ASN][1000 genomes]
rs35800368	0.83[ASN][1000 genomes]
rs3813010	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs3922849	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs4243222	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs4243223	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs4306504	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4313806	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs4366702	0.86[CHB][hapmap]
rs4426346	0.93[ASN][1000 genomes]
rs4450393	0.98[ASN][1000 genomes]
rs4888188	0.97[ASN][1000 genomes]
rs4888189	0.86[CHB][hapmap]
rs4889441	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564938	0.84[CHB][hapmap]
rs67150050	0.95[ASN][1000 genomes]
rs67522021	0.97[ASN][1000 genomes]
rs71400184	0.93[ASN][1000 genomes]
rs7192724	0.93[CHB][hapmap];0.92[CHD][hapmap]
rs7201045	0.93[CHB][hapmap];0.83[CHD][hapmap]
rs7203619	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7500286	0.82[JPT][hapmap]
rs8063604	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs8063728	0.93[CHB][hapmap]
rs9931137	0.93[CHB][hapmap]
rs9938623	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][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	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7193086	ATMIN	cis	parietal	SCAN
rs7193086	CSMD3	trans	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
2	chr16:81908400-81950000	Strong transcription	GM12878-XiMat	blood
3	chr16:81908400-81950200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:81924400-81961600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
8	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:81928000-81953200	Weak transcription	Fetal Thymus	thymus
10	chr16:81930800-81953400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:81931000-81949800	Strong transcription	Liver	Liver
12	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:81934600-81961200	Weak transcription	Colonic Mucosa	Colon
14	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
15	chr16:81935000-81953000	Weak transcription	Adipose Nuclei	Adipose
16	chr16:81936000-81982000	Weak transcription	Gastric	stomach
17	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:81936800-81951000	Strong transcription	Primary B cells from cord blood	blood
19	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr16:81937200-81955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:81941600-81966000	Weak transcription	Placenta	Placenta
22	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:81945600-81950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:81946600-81958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
27	chr16:81947200-81955200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:81948000-81953600	Weak transcription	Fetal Stomach	stomach
29	chr16:81948000-81958200	Weak transcription	Fetal Intestine Small	intestine
30	chr16:81948600-81953000	Weak transcription	Lung	lung
31	chr16:81949000-81952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:81949200-81953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:81949400-81952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:81949400-81952600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:81949400-81952600	Weak transcription	Spleen	Spleen
36	chr16:81949400-81952800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:81949400-81952800	Weak transcription	Duodenum Mucosa	Duodenum

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