Variant report

Variant	rs16933071
Chromosome Location	chr8:67752161-67752162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:67751802-67752746	SK-N-SH	brain:	n/a	chr8:67752030-67752039 chr8:67752028-67752037
2	EP300	chr8:67751760-67752261	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr8:67751800-67752193	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
SGK3	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs1138476	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985037	0.84[EUR][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap]
rs11988175	0.84[EUR][1000 genomes]
rs11988213	1.00[CEU][hapmap]
rs11989855	0.80[EUR][1000 genomes]
rs11990322	1.00[CEU][hapmap]
rs11990461	1.00[CEU][hapmap]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap]
rs11992605	1.00[CEU][hapmap]
rs11995256	1.00[CEU][hapmap]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs16933039	1.00[CEU][hapmap]
rs16933043	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933079	1.00[CEU][hapmap]
rs16933080	1.00[CEU][hapmap]
rs16933092	1.00[CEU][hapmap]
rs16933094	1.00[CEU][hapmap]
rs16933097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933125	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs16933138	1.00[CEU][hapmap]
rs16933139	1.00[CEU][hapmap]
rs16933148	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357998	1.00[CEU][hapmap]
rs28377622	0.84[EUR][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3779995	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs55783506	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55784133	0.94[AMR][1000 genomes]
rs56041142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56100064	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56115408	0.84[EUR][1000 genomes]
rs56717011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902031	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307420	0.84[EUR][1000 genomes]
rs58416462	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58787759	0.94[AMR][1000 genomes]
rs60167783	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60624770	0.80[EUR][1000 genomes]
rs60964596	0.81[EUR][1000 genomes]
rs61167401	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61476700	0.84[EUR][1000 genomes]
rs61552467	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6983632	1.00[CEU][hapmap]
rs6984447	1.00[CEU][hapmap]
rs6984650	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6987665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap]
rs7004549	0.84[EUR][1000 genomes]
rs7009678	0.84[EUR][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73691161	0.84[EUR][1000 genomes]
rs73691183	0.84[EUR][1000 genomes]
rs73691187	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691188	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691189	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691190	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691191	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691194	0.84[EUR][1000 genomes]
rs73691597	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73693106	0.84[EUR][1000 genomes]
rs73693110	0.84[EUR][1000 genomes]
rs73693114	0.84[EUR][1000 genomes]
rs7819894	1.00[CEU][hapmap]
rs7819895	1.00[CEU][hapmap]
rs7824775	1.00[CEU][hapmap]
rs7840192	1.00[CEU][hapmap]
rs979679	1.00[CEU][hapmap]

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	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67688000-67783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67689000-67782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:67696600-67767200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67696800-67783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:67700400-67758600	Weak transcription	Right Ventricle	heart
6	chr8:67707600-67772200	Weak transcription	Thymus	Thymus
7	chr8:67707600-67773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:67707600-67777000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:67707600-67783000	Weak transcription	Gastric	stomach
10	chr8:67707800-67756600	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:67711800-67755600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:67711800-67759200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:67711800-67760000	Weak transcription	Ovary	ovary
14	chr8:67711800-67782600	Weak transcription	HepG2	liver
15	chr8:67712200-67777200	Weak transcription	Esophagus	oesophagus
16	chr8:67715000-67759000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:67715800-67759200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:67717400-67759000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:67723800-67768400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:67727000-67759200	Weak transcription	Primary T cells from cord blood	blood
21	chr8:67727000-67760400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:67727000-67777200	Weak transcription	Pancreas	Pancrea
23	chr8:67727000-67782600	Weak transcription	Aorta	Aorta
24	chr8:67727200-67759200	Weak transcription	Fetal Intestine Large	intestine
25	chr8:67727400-67760200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:67727800-67752600	Weak transcription	Primary B cells from cord blood	blood
27	chr8:67728000-67759000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:67734200-67776000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:67735400-67755000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:67735800-67752400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:67735800-67759400	Weak transcription	Brain Anterior Caudate	brain
32	chr8:67737400-67759600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:67738600-67760400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:67738600-67762400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:67739600-67759200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:67739800-67774200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:67740600-67759200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:67741400-67757200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:67741800-67774200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:67741800-67774200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:67742400-67761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:67742600-67757600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:67743400-67767800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:67743400-67772400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:67744200-67767600	Weak transcription	Brain Angular Gyrus	brain
46	chr8:67744400-67756600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:67744600-67782800	Weak transcription	HSMM	muscle
48	chr8:67744800-67753000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:67746000-67761000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:67746600-67773000	Weak transcription	Small Intestine	intestine

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