Variant report

Variant	rs924049
Chromosome Location	chr12:26163536-26163537
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	TCF7L2	chr12:26163231-26163890	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr12:26163076-26163609	Hela-S3	cervix:	n/a	n/a
3	JUND	chr12:26163061-26163887	SK-N-SH	brain:	n/a	chr12:26163325-26163335 chr12:26163176-26163188 chr12:26163320-26163329 chr12:26163327-26163334 chr12:26163325-26163334
4	PBX3	chr12:26163075-26164580	SK-N-SH	brain:	n/a	n/a
5	TFAP2A	chr12:26163163-26163659	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:26163057-26163908	U87	brain:	n/a	n/a
7	NFIC	chr12:26162982-26163869	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr12:26163041-26164553	SK-N-SH	brain:	n/a	chr12:26163567-26163574 chr12:26163798-26163809 chr12:26164176-26164185
9	FOSL2	chr12:26163076-26163644	SK-N-SH	brain:	n/a	chr12:26163325-26163335 chr12:26163176-26163188 chr12:26163320-26163329 chr12:26163327-26163334 chr12:26163325-26163334
10	NFIC	chr12:26163071-26163739	SK-N-SH	brain:	n/a	n/a
11	EP300	chr12:26163030-26163705	ECC-1	luminal epithelium:	n/a	chr12:26163325-26163334
12	YY1	chr12:26163108-26163581	SK-N-SH	brain:	n/a	chr12:26163294-26163302
13	POLR2A	chr12:26163090-26163772	U87	brain:	n/a	n/a
14	RXRA	chr12:26163133-26163791	SK-N-SH	brain:	n/a	chr12:26163325-26163334 chr12:26163691-26163698
15	PBX3	chr12:26163192-26163933	SK-N-SH	brain:	n/a	n/a
16	EP300	chr12:26163187-26163854	SK-N-SH_RA	brain:	n/a	chr12:26163325-26163334
17	TCF12	chr12:26163053-26164648	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr12:26163131-26163816	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr12:26163044-26164692	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr12:26162988-26164584	SK-N-SH	brain:	n/a	chr12:26163567-26163574 chr12:26163798-26163809 chr12:26164176-26164185
21	POLR2A	chr12:26163125-26163747	SK-N-SH	brain:	n/a	n/a
22	EP300	chr12:26163267-26163854	SK-N-SH_RA	brain:	n/a	chr12:26163325-26163334
23	FOS	chr12:26163179-26163816	HUVEC	blood vessel:	n/a	chr12:26163325-26163335 chr12:26163320-26163329 chr12:26163324-26163335 chr12:26163327-26163334 chr12:26163325-26163334
24	EP300	chr12:26163004-26164496	SK-N-SH	brain:	n/a	chr12:26163325-26163334

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26115121..26117506-chr12:26161572..26164104,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10842652	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842654	0.93[ASN][1000 genomes]
rs11494759	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1355707	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929857	0.90[ASN][1000 genomes]
rs1797943	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2643934	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2669554	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2669560	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2729633	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2729653	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729654	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803008	0.88[ASN][1000 genomes]
rs4963643	0.89[ASN][1000 genomes]
rs73079021	0.92[ASN][1000 genomes]
rs924052	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949849	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804876	0.90[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	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
2	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:26160600-26163600	Weak transcription	Fetal Stomach	stomach
4	chr12:26160600-26167000	Weak transcription	Gastric	stomach
5	chr12:26160600-26168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:26160600-26168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:26160600-26168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:26160600-26168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:26161400-26164800	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:26161600-26164200	Enhancers	Fetal Heart	heart
14	chr12:26161600-26164600	Enhancers	Brain Anterior Caudate	brain
15	chr12:26161600-26167400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:26161800-26164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:26161800-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:26161800-26164800	Enhancers	Right Atrium	heart
19	chr12:26161800-26165000	Enhancers	Colon Smooth Muscle	Colon
20	chr12:26162000-26164800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:26162200-26164000	Weak transcription	Fetal Lung	lung
22	chr12:26162400-26163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:26162400-26164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:26162400-26164600	Enhancers	Brain Substantia Nigra	brain
25	chr12:26162400-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:26162400-26164800	Enhancers	Left Ventricle	heart
27	chr12:26162400-26164800	Enhancers	Ovary	ovary
28	chr12:26162400-26164800	Enhancers	Psoas Muscle	Psoas
29	chr12:26162400-26165000	Enhancers	HUVEC	blood vessel
30	chr12:26162600-26163800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:26162600-26164000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:26162600-26164200	Enhancers	Brain Angular Gyrus	brain
33	chr12:26162600-26164400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:26162600-26164800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:26162600-26164800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:26162600-26164800	Enhancers	Adipose Nuclei	Adipose
37	chr12:26162600-26164800	Enhancers	HMEC	breast
38	chr12:26162600-26164800	Enhancers	NHEK	skin
39	chr12:26162600-26164800	Enhancers	NHLF	lung
40	chr12:26162600-26165200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:26162800-26163600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:26162800-26163800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:26162800-26163800	Flanking Active TSS	Hela-S3	cervix
44	chr12:26162800-26164200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:26162800-26164600	Enhancers	NH-A	brain
46	chr12:26162800-26164800	Enhancers	HSMM	muscle
47	chr12:26163000-26163800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:26163000-26163800	Enhancers	Lung	lung
49	chr12:26163000-26164200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr12:26163000-26164200	Enhancers	Cortex derived primary cultured neurospheres	brain

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