Variant report

Variant	rs61914216
Chromosome Location	chr12:26162826-26162827
allele	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	STAT3	chr12:26162715-26162828	MCF10A-Er-Src	breast:	n/a	n/a

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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16929805	0.91[EUR][1000 genomes]
rs16929850	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16929965	0.80[ASN][1000 genomes]
rs2048608	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2172912	0.84[ASN][1000 genomes]
rs56959935	0.84[ASN][1000 genomes]
rs58597112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58882782	0.84[ASN][1000 genomes]
rs59714345	0.92[EUR][1000 genomes]
rs61914180	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61914181	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61914182	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61914183	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61914184	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61914186	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61914187	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61914211	0.92[EUR][1000 genomes]
rs61914212	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61914239	0.93[ASN][1000 genomes]
rs61914242	0.87[ASN][1000 genomes]
rs61914243	0.89[ASN][1000 genomes]
rs61914244	0.87[ASN][1000 genomes]
rs61914245	0.89[ASN][1000 genomes]
rs61915665	0.84[ASN][1000 genomes]
rs7962900	1.00[ASN][1000 genomes]
rs7963582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965337	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7965449	0.83[AMR][1000 genomes];0.91[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26146200-26163000	Weak transcription	Lung	lung
3	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
4	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
7	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:26156200-26163000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:26156400-26163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:26156400-26163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:26160400-26163000	Weak transcription	Right Ventricle	heart
13	chr12:26160600-26163000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:26160600-26163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:26160600-26163000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:26160600-26163200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:26160600-26163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:26160600-26163200	Weak transcription	Pancreas	Pancrea
19	chr12:26160600-26163400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:26160600-26163600	Weak transcription	Fetal Stomach	stomach
21	chr12:26160600-26167000	Weak transcription	Gastric	stomach
22	chr12:26160600-26168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:26160600-26168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:26160600-26168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:26160600-26168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:26161400-26164800	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:26161600-26164200	Enhancers	Fetal Heart	heart
31	chr12:26161600-26164600	Enhancers	Brain Anterior Caudate	brain
32	chr12:26161600-26167400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:26161800-26163400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:26161800-26164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:26161800-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:26161800-26164800	Enhancers	Right Atrium	heart
37	chr12:26161800-26165000	Enhancers	Colon Smooth Muscle	Colon
38	chr12:26162000-26164800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr12:26162200-26163200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr12:26162200-26163400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:26162200-26164000	Weak transcription	Fetal Lung	lung
42	chr12:26162400-26163200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:26162400-26163800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:26162400-26164600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:26162400-26164600	Enhancers	Brain Substantia Nigra	brain
46	chr12:26162400-26164800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:26162400-26164800	Enhancers	Left Ventricle	heart
48	chr12:26162400-26164800	Enhancers	Ovary	ovary
49	chr12:26162400-26164800	Enhancers	Psoas Muscle	Psoas
50	chr12:26162400-26165000	Enhancers	HUVEC	blood vessel

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