Variant report

Variant	rs186705056
Chromosome Location	chr12:26107677-26107678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr12:26107191-26107690	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 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	chr12:26107603..26109573-chr12:26124823..26126965,2	K562	blood:
4	chr12:26107125..26109528-chr12:26109576..26111769,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26107588-26108174	ENSG00000246695
2	lnc-BHLHE41-2	chr12:26105691-26109280	NONHSAT027366
3	lnc-BHLHE41-2	chr12:26107255-26108174	NONHSAT027377
4	lnc-BHLHE41-2	chr12:26107588-26108174	NONHSAT027378
5	lnc-BHLHE41-2	chr12:26107588-26108174	NR_038228

No data

Variant related genes	Relation type
RASSF8	TF binding region
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:54 , 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	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
13	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:26098000-26110200	Weak transcription	HSMM	muscle
15	chr12:26099800-26107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
17	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
18	chr12:26102800-26107800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:26104000-26109400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:26104200-26110200	Weak transcription	NH-A	brain
22	chr12:26104200-26110200	Weak transcription	NHEK	skin
23	chr12:26104200-26110600	Weak transcription	Liver	Liver
24	chr12:26104400-26110400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:26104600-26109600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:26104600-26110000	Weak transcription	Hela-S3	cervix
27	chr12:26105400-26110000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:26105400-26110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:26105600-26109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:26105600-26110000	Weak transcription	NHLF	lung
31	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
33	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:26106400-26110200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose
36	chr12:26106400-26110600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:26106600-26109000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:26106800-26109200	Strong transcription	Osteobl	bone
39	chr12:26106800-26110600	Weak transcription	Fetal Intestine Large	intestine
40	chr12:26107000-26108400	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:26107000-26108600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:26107000-26108800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:26107000-26109000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:26107000-26109000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:26107000-26109000	Strong transcription	NHDF-Ad	bronchial
46	chr12:26107000-26109200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:26107000-26109200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26107000-26109200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:26107200-26108600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:26107400-26109200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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