Variant report

Variant	rs9938623
Chromosome Location	chr16:81958173-81958174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81953166..81955440-chr16:81957513..81959425,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11646679	0.99[ASN][1000 genomes]
rs12444459	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12446596	0.93[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12596249	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs12716924	0.86[CHB][hapmap]
rs12716926	0.83[CHB][hapmap]
rs12924579	0.91[ASN][1000 genomes]
rs13333420	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16955980	0.97[ASN][1000 genomes]
rs17202296	0.93[CHB][hapmap];0.84[CHD][hapmap]
rs35800368	0.81[ASN][1000 genomes]
rs3813010	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs3922849	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs4243222	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4243223	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4306504	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4313806	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4366702	0.86[CHB][hapmap]
rs4426346	0.99[ASN][1000 genomes]
rs4450393	0.92[ASN][1000 genomes]
rs4888188	0.93[ASN][1000 genomes]
rs4888189	0.86[CHB][hapmap]
rs4889441	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs6564938	0.84[CHB][hapmap]
rs67150050	0.89[ASN][1000 genomes]
rs67522021	0.93[ASN][1000 genomes]
rs71400184	0.87[ASN][1000 genomes]
rs7192724	0.93[CHB][hapmap];0.88[CHD][hapmap]
rs7193086	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs7201045	0.93[CHB][hapmap]
rs7203619	0.87[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs7500286	0.82[JPT][hapmap]
rs8063604	0.93[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8063728	0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9931137	0.93[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9938623	ATMIN	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81909400-81961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:81924400-81961600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:81924400-81970000	Weak transcription	Fetal Intestine Large	intestine
5	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:81934600-81961200	Weak transcription	Colonic Mucosa	Colon
8	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
9	chr16:81936000-81982000	Weak transcription	Gastric	stomach
10	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:81937000-81969800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:81941600-81966000	Weak transcription	Placenta	Placenta
13	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:81946600-81958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:81947000-81969200	Weak transcription	Pancreas	Pancrea
17	chr16:81948000-81958200	Weak transcription	Fetal Intestine Small	intestine
18	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
19	chr16:81951200-81962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:81951400-81971400	Weak transcription	Left Ventricle	heart
21	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr16:81952400-81958800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:81952600-81958400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr16:81952600-81970600	Strong transcription	Spleen	Spleen
26	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
27	chr16:81952800-81958800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:81952800-81984600	Strong transcription	Liver	Liver
30	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:81953400-81962200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:81954800-81962200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
34	chr16:81955400-81970200	Weak transcription	Brain Substantia Nigra	brain
35	chr16:81956400-81971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:81956400-81971600	Weak transcription	Fetal Kidney	kidney
37	chr16:81956800-81962000	Weak transcription	HMEC	breast
38	chr16:81957000-81971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:81957200-81958600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:81957400-81961200	Weak transcription	Lung	lung
41	chr16:81957600-81960600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:81957800-81959200	Strong transcription	Adipose Nuclei	Adipose
43	chr16:81957800-81959200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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