Variant report

Variant	rs12821132
Chromosome Location	chr12:32855372-32855373
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	GATA3	chr12:32855252-32856008	SK-N-SH	brain:	n/a	chr12:32855466-32855473 chr12:32855465-32855475 chr12:32855462-32855478 chr12:32855459-32855480 chr12:32855466-32855475 chr12:32855466-32855475 chr12:32855466-32855473 chr12:32855466-32855473
2	EP300	chr12:32855013-32856314	SK-N-SH	brain:	n/a	chr12:32855986-32856000 chr12:32855988-32856002
3	GATA3	chr12:32855216-32855753	SK-N-SH	brain:	n/a	chr12:32855466-32855473 chr12:32855465-32855475 chr12:32855462-32855478 chr12:32855459-32855480 chr12:32855466-32855475 chr12:32855466-32855475 chr12:32855466-32855473 chr12:32855466-32855473
4	GATA3	chr12:32855356-32855730	SH-SY5Y	brain:	n/a	chr12:32855466-32855473 chr12:32855465-32855475 chr12:32855462-32855478 chr12:32855459-32855480 chr12:32855466-32855475 chr12:32855466-32855475 chr12:32855466-32855473 chr12:32855466-32855473

Variant related genes	Relation type
DNM1L	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10506100	1.00[JPT][hapmap]
rs11052079	1.00[YRI][hapmap]
rs11052092	1.00[YRI][hapmap]
rs11052113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052134	0.81[ASN][1000 genomes]
rs11052136	0.81[ASN][1000 genomes]
rs11611761	1.00[JPT][hapmap]
rs12299270	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12299979	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12307858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12312968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12314569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12322190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12366836	0.81[ASN][1000 genomes]
rs12579412	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12580531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12815754	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16920101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16920249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17539491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs17539792	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs17539848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543624	1.00[JPT][hapmap]
rs1869652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1995227	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2133543	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34032717	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4575368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55891447	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56331606	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56373028	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67215596	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67335394	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67573810	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7299220	1.00[JPT][hapmap]
rs7301619	1.00[JPT][hapmap]
rs7302961	1.00[ASN][1000 genomes]
rs7313522	1.00[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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32833200-32864000	Weak transcription	Esophagus	oesophagus
2	chr12:32833200-32864600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:32833400-32859000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:32833400-32864000	Weak transcription	Thymus	Thymus
5	chr12:32833600-32861400	Weak transcription	Right Atrium	heart
6	chr12:32833600-32861800	Weak transcription	Fetal Thymus	thymus
7	chr12:32833800-32859000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:32833800-32863000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:32834200-32864800	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:32834200-32865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:32834200-32871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:32834400-32856200	Weak transcription	NH-A	brain
13	chr12:32834400-32859200	Weak transcription	Liver	Liver
14	chr12:32834400-32859600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:32834400-32861600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:32834400-32864000	Weak transcription	Primary T cells from cord blood	blood
17	chr12:32834400-32864600	Weak transcription	Fetal Brain Male	brain
18	chr12:32834800-32859000	Weak transcription	NHDF-Ad	bronchial
19	chr12:32834800-32864200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:32835000-32864000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:32835000-32864000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:32835000-32874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:32835000-32902600	Weak transcription	Gastric	stomach
24	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
25	chr12:32835400-32867600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:32837200-32863200	Weak transcription	Osteobl	bone
27	chr12:32838600-32862200	Weak transcription	Fetal Lung	lung
28	chr12:32838800-32858600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:32839600-32859200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32839800-32858800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:32840400-32855600	Weak transcription	Hela-S3	cervix
32	chr12:32841800-32858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:32841800-32864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:32842000-32864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:32842400-32874400	Weak transcription	Lung	lung
36	chr12:32843800-32864200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:32845600-32864000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:32845800-32858600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:32845800-32864000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:32846000-32864200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:32846200-32859200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:32846800-32871400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:32847200-32863800	Weak transcription	Psoas Muscle	Psoas
44	chr12:32847400-32859000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:32848000-32862000	Weak transcription	HSMM	muscle
46	chr12:32848200-32855600	Weak transcription	Dnd41	blood
47	chr12:32848200-32859400	Weak transcription	Primary B cells from cord blood	blood
48	chr12:32848400-32856200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:32848600-32858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32848600-32858800	Weak transcription	NHEK	skin

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