Variant report

Variant	rs11613738
Chromosome Location	chr12:30886435-30886436
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	chr12:30886088-30886522	SH-SY5Y	brain:	n/a	n/a
2	JUND	chr12:30885966-30886507	HepG2	liver:	n/a	n/a
3	MYBL2	chr12:30885869-30886609	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:30885957-30886487	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:30886051-30886494	HepG2	liver:	n/a	n/a
6	MAZ	chr12:30886422-30886640	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CAPRIN2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11051014	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11051031	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11051032	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11051036	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11051039	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11051040	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs11051060	0.83[ASN][1000 genomes]
rs11051064	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11608803	0.81[CEU][hapmap];0.93[AMR][1000 genomes]
rs12229986	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12230006	0.83[ASN][1000 genomes]
rs16906758	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16916147	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17486840	0.80[CEU][hapmap];0.86[AMR][1000 genomes]
rs17560141	0.93[AMR][1000 genomes]
rs17687472	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17687791	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17687846	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17687964	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17688567	0.89[AMR][1000 genomes]
rs17739338	0.81[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2099029	0.81[CEU][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2882856	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3888018	0.82[JPT][hapmap]
rs4459394	0.86[AMR][1000 genomes]
rs4930937	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4931357	0.86[AMR][1000 genomes]
rs4931358	0.93[AMR][1000 genomes]
rs4931359	0.89[AMR][1000 genomes]
rs4931363	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55957969	0.93[AMR][1000 genomes]
rs7300410	1.00[MEX][hapmap]
rs73077869	0.93[AMR][1000 genomes]
rs73077870	0.93[AMR][1000 genomes]
rs73077877	0.93[AMR][1000 genomes]
rs73077884	0.93[AMR][1000 genomes]
rs73077887	0.93[AMR][1000 genomes]
rs73077893	0.93[AMR][1000 genomes]
rs73079959	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079962	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079965	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079966	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079970	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079971	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73079996	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7954995	0.85[YRI][hapmap]
rs7977562	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
2	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
5	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
10	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
11	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:30869800-30889000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:30871400-30900800	Weak transcription	K562	blood
15	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
19	chr12:30876200-30894800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:30878000-30899200	Weak transcription	Fetal Brain Male	brain
21	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
23	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:30879600-30899400	Weak transcription	NHDF-Ad	bronchial
26	chr12:30879800-30895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:30879800-30905800	Weak transcription	NHLF	lung
28	chr12:30880000-30893800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:30880400-30888400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:30881400-30887800	Weak transcription	Primary B cells from cord blood	blood
31	chr12:30882000-30899200	Weak transcription	Brain Germinal Matrix	brain
32	chr12:30882000-30899200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
34	chr12:30882200-30887000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:30882200-30887000	Weak transcription	Thymus	Thymus
36	chr12:30882200-30887200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:30882200-30889400	Weak transcription	Fetal Thymus	thymus
38	chr12:30882200-30891200	Weak transcription	Adipose Nuclei	Adipose
39	chr12:30882200-30892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:30882200-30892000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:30882200-30894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:30882200-30899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:30882200-30899200	Weak transcription	Aorta	Aorta
44	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:30882200-30906400	Weak transcription	Lung	lung
48	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
50	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus

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