Variant report

Variant	rs904582
Chromosome Location	chr12:32735236-32735237
allele	A/C/G/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	CTCF	chr12:32735180-32735330	GM06990	blood:	n/a	n/a
2	CTCF	chr12:32735140-32735290	GM12871	blood:	n/a	n/a
3	CTCF	chr12:32735160-32735310	GM12875	blood:	n/a	n/a

Variant related genes	Relation type
FGD4	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10047581	0.92[CHB][hapmap]
rs10129039	0.82[ASN][1000 genomes]
rs10129043	0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs10161053	0.81[ASN][1000 genomes]
rs10743799	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs10743800	0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10771964	0.91[EUR][1000 genomes]
rs10771965	0.99[ASN][1000 genomes]
rs10771966	1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[ASN][1000 genomes]
rs10771967	0.98[ASN][1000 genomes]
rs10844249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10844250	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs10844251	0.92[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs11052090	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs11052094	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11052100	0.81[ASN][1000 genomes]
rs1472501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1472502	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909513	0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1979824	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs1979826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.83[TSI][hapmap];0.98[ASN][1000 genomes]
rs2036267	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs2291882	0.99[ASN][1000 genomes]
rs2291883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389102	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2389103	0.98[ASN][1000 genomes]
rs2389104	0.98[ASN][1000 genomes]
rs4931018	1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs4931021	0.98[ASN][1000 genomes]
rs4931023	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4931026	0.82[ASN][1000 genomes]
rs4931027	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4931639	0.92[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4931640	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6488067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488068	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.80[LWK][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488069	0.86[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488070	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488071	0.91[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7136686	0.91[EUR][1000 genomes]
rs7300661	0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7308071	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311621	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315971	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316616	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954226	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs7962088	0.98[ASN][1000 genomes]
rs7964734	0.96[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965993	0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7968781	0.81[ASN][1000 genomes]
rs7968790	0.84[EUR][1000 genomes]
rs7971634	0.96[ASN][1000 genomes]
rs7977053	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979016	0.92[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
4	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
7	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
9	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:32721400-32743600	Weak transcription	Fetal Heart	heart
12	chr12:32722200-32738600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:32722600-32739200	Weak transcription	NHLF	lung
14	chr12:32722600-32740800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:32722600-32754400	Weak transcription	Colonic Mucosa	Colon
16	chr12:32722600-32757600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:32722600-32764800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:32722600-32764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:32722600-32764800	Weak transcription	Psoas Muscle	Psoas
20	chr12:32722600-32779400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:32723600-32756600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:32725000-32739600	Weak transcription	Right Atrium	heart
23	chr12:32725200-32743800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:32725200-32778600	Weak transcription	Fetal Brain Male	brain
25	chr12:32726000-32741600	Weak transcription	Stomach Mucosa	stomach
26	chr12:32726400-32737200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:32727200-32736200	Weak transcription	Fetal Kidney	kidney
28	chr12:32727200-32736200	Weak transcription	NHDF-Ad	bronchial
29	chr12:32727600-32737400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:32727600-32738000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:32728000-32738600	Strong transcription	Liver	Liver
32	chr12:32728200-32735800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:32728200-32737800	Strong transcription	HSMM	muscle
34	chr12:32728400-32738600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:32728600-32757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:32728800-32738600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:32729000-32737200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:32729000-32738600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:32729000-32740000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:32729600-32735600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:32729800-32737000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:32730600-32738600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:32730800-32735600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:32730800-32736600	Strong transcription	Fetal Intestine Large	intestine
45	chr12:32730800-32737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:32731000-32739000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:32731200-32736400	Weak transcription	A549	lung
48	chr12:32731400-32736400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:32731600-32736000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:32731600-32737200	Strong transcription	Fetal Muscle Leg	muscle

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