Variant report

Variant	rs12631785
Chromosome Location	chr3:23953158-23953159
allele	A/G
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	MAFK	chr3:23952979-23953164	HepG2	liver:	n/a	chr3:23953086-23953102 chr3:23953084-23953104 chr3:23953089-23953104
2	MAFK	chr3:23952994-23953214	IMR90	lung:	n/a	chr3:23953086-23953102 chr3:23953084-23953104 chr3:23953089-23953104
3	MAFK	chr3:23953018-23953240	K562	blood:	n/a	chr3:23953086-23953102 chr3:23953084-23953104 chr3:23953089-23953104
4	MAFF	chr3:23953061-23953173	K562	blood:	n/a	chr3:23953087-23953101 chr3:23953088-23953106
5	MAFF	chr3:23952987-23953199	HepG2	liver:	n/a	chr3:23953087-23953101 chr3:23953088-23953106
6	MAFK	chr3:23952932-23953252	HepG2	liver:	n/a	chr3:23953086-23953102 chr3:23953084-23953104 chr3:23953089-23953104

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23946806..23949450-chr3:23951534..23953595,2	MCF-7	breast:

Variant related genes	Relation type
RPL15	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1026407	1.00[JPT][hapmap]
rs11707828	1.00[JPT][hapmap]
rs1471060	1.00[JPT][hapmap]
rs1473380	0.85[JPT][hapmap]
rs1473381	0.86[JPT][hapmap]
rs4025822	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4241514	0.88[EUR][1000 genomes]
rs4241517	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs4321479	0.83[CEU][hapmap]
rs4546101	0.87[ASN][1000 genomes]
rs4589882	0.83[CEU][hapmap]
rs4858094	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4858095	0.82[CEU][hapmap]
rs4858098	0.83[CEU][hapmap]
rs4858551	0.85[EUR][1000 genomes]
rs4858553	0.91[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs4858567	0.83[CEU][hapmap]
rs4858569	0.83[CEU][hapmap]
rs5023610	0.83[CEU][hapmap]
rs6550804	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6550815	0.82[EUR][1000 genomes]
rs6550823	0.83[CEU][hapmap]
rs6762238	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6764154	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6779476	0.83[CEU][hapmap]
rs6794922	0.83[CEU][hapmap]
rs6807856	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71615358	0.80[EUR][1000 genomes]
rs7615009	0.92[ASN][1000 genomes]
rs7615255	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7626431	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7636810	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7648931	0.94[ASN][1000 genomes]
rs7651185	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9842907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9845287	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9853532	0.89[EUR][1000 genomes]
rs9863320	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9869299	0.91[JPT][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	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23922400-23956600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:23923000-23956600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:23923400-23955200	Weak transcription	Thymus	Thymus
4	chr3:23923400-23957000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:23923600-23956800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:23924200-23957800	Weak transcription	Esophagus	oesophagus
7	chr3:23924200-23957800	Weak transcription	Lung	lung
8	chr3:23928000-23957200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:23928800-23956000	Weak transcription	Small Intestine	intestine
10	chr3:23928800-23957400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:23929000-23956600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:23930800-23954800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:23930800-23956800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:23932000-23955400	Weak transcription	NHEK	skin
15	chr3:23934200-23956600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:23934400-23956400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:23935000-23957400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:23935800-23954400	Weak transcription	NH-A	brain
19	chr3:23935800-23954600	Weak transcription	HUVEC	blood vessel
20	chr3:23936400-23956400	Weak transcription	Psoas Muscle	Psoas
21	chr3:23936800-23957200	Weak transcription	Brain Substantia Nigra	brain
22	chr3:23937000-23956600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:23939800-23956600	Weak transcription	Fetal Brain Male	brain
24	chr3:23940400-23956600	Weak transcription	Pancreas	Pancrea
25	chr3:23940600-23956600	Weak transcription	Brain Germinal Matrix	brain
26	chr3:23940600-23956800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:23940800-23955400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:23940800-23956200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:23940800-23956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:23940800-23956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:23940800-23956600	Weak transcription	Left Ventricle	heart
32	chr3:23940800-23956600	Weak transcription	NHLF	lung
33	chr3:23940800-23957000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:23940800-23957200	Weak transcription	Right Ventricle	heart
35	chr3:23941000-23956000	Weak transcription	HMEC	breast
36	chr3:23941000-23956600	Weak transcription	Primary B cells from cord blood	blood
37	chr3:23941200-23955200	Weak transcription	Fetal Kidney	kidney
38	chr3:23941200-23956200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:23941200-23956400	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:23941400-23956400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:23941400-23956800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:23942000-23956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:23942200-23956600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:23942600-23956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:23942600-23957000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:23942800-23956600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:23942800-23957000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:23943000-23955800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:23943000-23956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:23943000-23957200	Weak transcription	Primary T cells from cord blood	blood

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