Variant report

Variant	rs706516
Chromosome Location	chr12:26107172-26107173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26107040-26107190	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr12:26107060-26107210	HRPEpiC	eye:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26105978..26107821-chr12:26108027..26109546,2	MCF-7	breast:
2	chr12:26103913..26105665-chr12:26106928..26108647,2	MCF-7	breast:
3	chr12:26107125..26109528-chr12:26109576..26111769,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26105691-26109280	NONHSAT027366

No data

Variant related genes	Relation type
RASSF8	TF binding region
ENSG00000246695	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1167547	0.97[ASN][1000 genomes]
rs12316290	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426577	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12815996	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12824437	0.86[ASN][1000 genomes]
rs1691897	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2634177	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34292473	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34451983	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34590162	0.86[ASN][1000 genomes]
rs34698110	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706513	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853654	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3413766	chr12:26106544-26107734	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
6	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:26092800-26109400	Weak transcription	Ovary	ovary
9	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:26095800-26108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:26096200-26107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
14	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:26098000-26110200	Weak transcription	HSMM	muscle
16	chr12:26099800-26107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
19	chr12:26102800-26107800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:26104000-26109400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:26104200-26110200	Weak transcription	NH-A	brain
23	chr12:26104200-26110200	Weak transcription	NHEK	skin
24	chr12:26104200-26110600	Weak transcription	Liver	Liver
25	chr12:26104400-26107200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:26104400-26110400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:26104600-26109600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:26104600-26110000	Weak transcription	Hela-S3	cervix
29	chr12:26105400-26110000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:26105400-26110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:26105600-26109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:26105600-26110000	Weak transcription	NHLF	lung
33	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
35	chr12:26106000-26107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:26106400-26110200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose
39	chr12:26106400-26110600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:26106600-26109000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:26106800-26109200	Strong transcription	Osteobl	bone
42	chr12:26106800-26110600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:26107000-26107400	Strong transcription	Left Ventricle	heart
44	chr12:26107000-26108400	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:26107000-26108600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:26107000-26108800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:26107000-26109000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:26107000-26109000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:26107000-26109000	Strong transcription	NHDF-Ad	bronchial
50	chr12:26107000-26109200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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