Variant report

Variant	rs706521
Chromosome Location	chr12:26114019-26114020
allele	C/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	TCF7L2	chr12:26113640-26114691	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
3	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
4	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
6	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251
7	FOS	chr12:26114018-26114100	MCF10A-Er-Src	breast:	n/a	chr12:26114086-26114098 chr12:26114088-26114096

No.	Distal block	Cell Line	Cell type
1	chr12:26113833..26115366-chr12:26119637..26121899,2	K562	blood:
2	chr12:26112991..26115825-chr12:26120756..26122747,2	MCF-7	breast:
3	chr12:25986954..25988487-chr12:26111623..26114201,2	MCF-7	breast:

Variant related genes	Relation type
RASSF8-AS1	TF binding region
ENSG00000256440	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10842656	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1797943	0.82[GIH][hapmap]
rs1797944	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706529	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706536	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][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	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:26110800-26114600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:26111000-26114200	Active TSS	Stomach Smooth Muscle	stomach
5	chr12:26112800-26114200	Flanking Active TSS	Osteobl	bone
6	chr12:26112800-26116600	Weak transcription	Spleen	Spleen
7	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
8	chr12:26113000-26114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:26113000-26114800	Enhancers	Fetal Heart	heart
10	chr12:26113000-26115200	Enhancers	Lung	lung
11	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:26113200-26114200	Flanking Active TSS	HUVEC	blood vessel
13	chr12:26113400-26114200	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr12:26113400-26114200	Enhancers	NHEK	skin
15	chr12:26113400-26114600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:26113400-26114600	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:26113400-26114600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:26113400-26114800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:26113400-26114800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:26113400-26114800	Enhancers	Fetal Lung	lung
21	chr12:26113400-26115000	Enhancers	Aorta	Aorta
22	chr12:26113400-26115000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:26113400-26115200	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:26113400-26116400	Weak transcription	Esophagus	oesophagus
25	chr12:26113400-26116400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:26113400-26117000	Enhancers	Brain Substantia Nigra	brain
27	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:26113400-26128800	Weak transcription	HSMM	muscle
33	chr12:26113600-26114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:26113600-26114200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:26113600-26114200	Flanking Active TSS	NH-A	brain
36	chr12:26113600-26114400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:26113600-26115000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:26113600-26115000	Flanking Active TSS	Hela-S3	cervix
39	chr12:26113600-26115000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr12:26113600-26115200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:26113600-26115200	Enhancers	Brain Angular Gyrus	brain
42	chr12:26113600-26116000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:26113600-26116400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:26113600-26118200	Weak transcription	HSMMtube	muscle
45	chr12:26113800-26114200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:26113800-26114200	Flanking Active TSS	Fetal Kidney	kidney
47	chr12:26113800-26114400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:26113800-26114600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:26113800-26114600	Enhancers	Brain Anterior Caudate	brain
50	chr12:26113800-26114800	Weak transcription	Left Ventricle	heart

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