Variant report

Variant	rs706531
Chromosome Location	chr12:26125969-26125970
allele	A/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	MYC	chr12:26125713-26126065	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:26125732-26126089	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:26125684-26126089	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:26125740-26126085	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr12:26125782-26126035	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:26125732-26126098	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr12:26125753-26126074	IMR90	lung:	n/a	n/a
8	STAT3	chr12:26125761-26126077	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr12:26125793-26126021	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr12:26125790-26126002	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10505990	0.82[JPT][hapmap]
rs10842643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842653	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048360	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048372	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11048378	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048379	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048380	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048381	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048382	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048383	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11048384	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11048389	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048390	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1120064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1149804	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1149805	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11561207	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12227689	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12578169	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12812200	0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12812752	0.93[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813641	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12818478	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12831248	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1390326	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1691889	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16929784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929846	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16929940	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs16929945	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs16929950	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs16929958	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2055180	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2132317	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2343201	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2634178	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2643941	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34294573	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34595529	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924984	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61622173	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6487525	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs706524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706526	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs706530	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs706532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706535	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs706537	1.00[YRI][hapmap]
rs706538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132590	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7134721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953171	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963603	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963856	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829987	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs853656	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26113400-26128800	Weak transcription	HSMM	muscle
3	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
6	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
8	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
10	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:26122400-26126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:26122400-26128200	Enhancers	Osteobl	bone
19	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
24	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:26123800-26134200	Weak transcription	Gastric	stomach
28	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:26124000-26126200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:26124200-26126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:26124400-26126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:26124400-26126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:26124400-26126200	Weak transcription	Brain Angular Gyrus	brain
35	chr12:26124400-26126200	Weak transcription	Right Ventricle	heart
36	chr12:26124400-26126600	Weak transcription	Lung	lung
37	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
38	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
39	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:26124600-26126200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:26124600-26126400	Enhancers	NHLF	lung
42	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
43	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
44	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
45	chr12:26125000-26126000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:26125000-26126000	Weak transcription	Ovary	ovary
47	chr12:26125000-26126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:26125000-26126200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:26125000-26126200	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:26125000-26126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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