Variant report

Variant	rs7611018
Chromosome Location	chr3:23921256-23921257
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	GATA2	chr3:23921063-23921389	SH-SY5Y	brain:	n/a	chr3:23921253-23921269
2	POLR2A	chr3:23920520-23921430	K562	blood:	n/a	n/a
3	CCNT2	chr3:23921090-23921344	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231395	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10084748	1.00[ASN][1000 genomes]
rs1037635	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs11129128	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs13070128	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087250	1.00[ASN][1000 genomes]
rs13316457	1.00[ASN][1000 genomes]
rs13317815	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs1567579	1.00[ASN][1000 genomes]
rs1567580	1.00[ASN][1000 genomes]
rs28524116	1.00[ASN][1000 genomes]
rs34036067	1.00[ASN][1000 genomes]
rs34058540	1.00[ASN][1000 genomes]
rs34082882	1.00[ASN][1000 genomes]
rs34866549	1.00[ASN][1000 genomes]
rs34953164	1.00[ASN][1000 genomes]
rs35136361	1.00[ASN][1000 genomes]
rs35755171	1.00[ASN][1000 genomes]
rs35755253	1.00[ASN][1000 genomes]
rs36063721	1.00[ASN][1000 genomes]
rs36089963	1.00[ASN][1000 genomes]
rs3762775	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3935253	1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs4131404	1.00[ASN][1000 genomes]
rs4300960	1.00[ASN][1000 genomes]
rs4490300	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs4535169	1.00[ASN][1000 genomes]
rs4602333	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4858096	1.00[ASN][1000 genomes]
rs4858554	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858556	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858564	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]
rs55932805	1.00[ASN][1000 genomes]
rs6550808	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66609380	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67002637	1.00[ASN][1000 genomes]
rs67236598	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67606949	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6767005	1.00[ASN][1000 genomes]
rs6775878	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776201	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6776568	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6778577	1.00[MEX][hapmap];0.81[TSI][hapmap]
rs6790140	1.00[ASN][1000 genomes]
rs6791805	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs6803214	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71324126	1.00[ASN][1000 genomes]
rs73150266	1.00[ASN][1000 genomes]
rs73150299	1.00[ASN][1000 genomes]
rs7610689	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610935	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954748	1.00[ASN][1000 genomes]
rs9809225	1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9812419	1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9812870	0.80[AMR][1000 genomes]
rs9853954	1.00[ASN][1000 genomes]
rs9855481	1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs9859567	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9863176	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9875577	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9882067	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883834	1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];1.00[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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23901200-23942000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:23901800-23928800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:23901800-23935600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:23903400-23929400	Weak transcription	Dnd41	blood
5	chr3:23904800-23930800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:23906400-23922000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:23906600-23931800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:23907600-23922200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:23907600-23940200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:23908000-23922400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr3:23908000-23923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:23908000-23931600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:23908000-23935600	Weak transcription	Fetal Kidney	kidney
14	chr3:23908000-23935600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:23908000-23940200	Weak transcription	Gastric	stomach
16	chr3:23908200-23930400	Weak transcription	HepG2	liver
17	chr3:23911800-23922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:23912000-23923400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:23912200-23922000	Weak transcription	K562	blood
20	chr3:23912200-23930200	Weak transcription	Liver	Liver
21	chr3:23914000-23924000	Weak transcription	Fetal Intestine Large	intestine
22	chr3:23915800-23923200	Weak transcription	Esophagus	oesophagus
23	chr3:23916000-23923400	Weak transcription	Fetal Brain Female	brain
24	chr3:23916000-23934000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:23916000-23950200	Weak transcription	Aorta	Aorta
26	chr3:23916200-23948800	Weak transcription	Colonic Mucosa	Colon
27	chr3:23916600-23932800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:23916800-23922200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:23917200-23931600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:23917600-23931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:23918000-23922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:23918600-23931600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr3:23918800-23928800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:23919000-23922000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:23919000-23923200	Weak transcription	Spleen	Spleen
36	chr3:23919000-23940000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:23919200-23922000	Weak transcription	Adipose Nuclei	Adipose
38	chr3:23919200-23922000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:23919200-23922400	Weak transcription	Fetal Thymus	thymus
40	chr3:23919200-23923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:23919200-23930200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:23919200-23931000	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:23919200-23931400	Weak transcription	Fetal Lung	lung
44	chr3:23919200-23935800	Weak transcription	Psoas Muscle	Psoas
45	chr3:23919200-23938400	Weak transcription	Ovary	ovary
46	chr3:23919200-23940200	Weak transcription	Pancreas	Pancrea
47	chr3:23919400-23921400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:23919400-23923200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:23919400-23923200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:23919400-23926400	Weak transcription	HMEC	breast

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