Variant report

Variant	rs12809390
Chromosome Location	chr12:32114158-32114159
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	WRNIP1	chr12:32114154-32114418	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:32114106-32114488	GM12878	blood:	n/a	n/a
3	USF2	chr12:32114149-32114286	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:32113962-32114462	GM12878	blood:	n/a	chr12:32114225-32114234 chr12:32114225-32114234
5	CUX1	chr12:32114136-32114395	GM12878	blood:	n/a	n/a
6	ZMIZ1	chr12:32113990-32114431	K562	blood:	n/a	n/a
7	BHLHE40	chr12:32114136-32114704	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:32114117-32114605	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:32111353-32114812	GM12891	blood:	n/a	n/a
10	IKZF1	chr12:32113737-32114439	GM12878	blood:	n/a	n/a
11	RUNX3	chr12:32113998-32114497	GM12878	blood:	n/a	chr12:32114225-32114234 chr12:32114225-32114234
12	POLR2A	chr12:32111831-32114765	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:32114088-32114269	Hela-S3	cervix:	n/a	n/a
14	STAT1	chr12:32114146-32114160	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:32114098-32115031	GM12892	blood:	n/a	n/a
16	ELK1	chr12:32114094-32114340	GM12878	blood:	n/a	n/a
17	MXI1	chr12:32111834-32114406	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:32113655-32115761	K562	blood:	n/a	n/a
19	RCOR1	chr12:32114141-32114353	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31878745..31882142-chr12:32111934..32114509,3	K562	blood:
2	chr12:31868001..31870341-chr12:32112733..32115276,2	K562	blood:
3	chr12:32081705..32084411-chr12:32112692..32114835,2	K562	blood:

Variant related genes	Relation type
KIAA1551	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11051704	0.83[AMR][1000 genomes]
rs11051706	0.80[AMR][1000 genomes]
rs3213955	0.83[AMR][1000 genomes]
rs35533133	0.80[AMR][1000 genomes]
rs35771026	0.80[AMR][1000 genomes]
rs3759300	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32111200-32114200	Active TSS	Psoas Muscle	Psoas
2	chr12:32111200-32114800	Active TSS	Right Atrium	heart
3	chr12:32111200-32116000	Active TSS	Ovary	ovary
4	chr12:32111400-32114200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr12:32111400-32114600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:32111400-32114600	Active TSS	Aorta	Aorta
7	chr12:32111600-32114200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:32111600-32114200	Active TSS	Fetal Intestine Large	intestine
9	chr12:32111600-32114200	Active TSS	Lung	lung
10	chr12:32111600-32114200	Active TSS	Right Ventricle	heart
11	chr12:32111600-32114200	Active TSS	GM12878-XiMat	blood
12	chr12:32111600-32114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:32111600-32114400	Active TSS	Fetal Intestine Small	intestine
14	chr12:32111800-32114200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:32111800-32114400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:32111800-32114600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:32111800-32115800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr12:32112000-32114200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:32112000-32114200	Active TSS	Gastric	stomach
20	chr12:32112000-32114400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:32112000-32114400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:32112000-32114800	Active TSS	Esophagus	oesophagus
23	chr12:32112200-32114200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:32113000-32114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:32113000-32114400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr12:32113000-32115000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:32113000-32115600	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr12:32113200-32114200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:32113200-32114200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:32113200-32114200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:32113200-32114400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr12:32113200-32114600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:32113400-32114200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:32113400-32114200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:32113400-32114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:32113400-32114200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr12:32113400-32114200	Flanking Active TSS	Liver	Liver
38	chr12:32113400-32114200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr12:32113400-32114200	Flanking Active TSS	Fetal Heart	heart
40	chr12:32113400-32114200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:32113400-32114200	Weak transcription	Spleen	Spleen
42	chr12:32113400-32114200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:32113400-32114400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr12:32113400-32114400	Flanking Active TSS	Colonic Mucosa	Colon
45	chr12:32113400-32114400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:32113400-32114400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr12:32113400-32114400	Flanking Active TSS	A549	lung
48	chr12:32113400-32114400	Flanking Active TSS	HMEC	breast
49	chr12:32113400-32114600	Flanking Active TSS	Fetal Kidney	kidney
50	chr12:32113400-32114800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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