Variant report

Variant	rs372378397
Chromosome Location	chr12:123757331-123757332
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:19)
LncRNA
region (count:0)
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	POLR2A	chr12:123757288-123757351	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
2	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
3	chr1:115299292..115301809-chr12:123754705..123757686,2	MCF-7	breast:
4	chr12:123755058..123757440-chr12:124084744..124087456,3	K562	blood:
5	chr12:123755222..123757665-chr12:123766639..123768783,2	MCF-7	breast:
6	chr12:123754759..123757395-chr12:123866766..123872450,7	MCF-7	breast:
7	chr12:123449665..123451282-chr12:123753748..123757462,3	MCF-7	breast:
8	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
9	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
10	chr12:123756249..123757789-chr12:123941373..123944326,2	K562	blood:
11	chr12:123753293..123757508-chr12:124015727..124020202,5	K562	blood:
12	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
13	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
14	chr12:123755285..123757528-chr12:124068793..124071301,3	MCF-7	breast:
15	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
16	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
17	chr12:123737049..123739965-chr12:123755070..123757447,2	K562	blood:
18	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
19	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

No data

Variant related genes	Relation type
CDK2AP1	TF binding region
ENSG00000183955	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000199845	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000009307	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000139697	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	esv3506414	chr12:123754849-123757572	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3506415	chr12:123754849-123757572	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	esv3441214	chr12:123755024-123757572	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 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	chr12:123754000-123757400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr12:123754000-123757600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:123754200-123757400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:123754200-123757400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:123756600-123757400	Active TSS	Fetal Kidney	kidney
6	chr12:123756600-123757600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:123756800-123757400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:123756800-123757400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:123756800-123757400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123756800-123757400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:123756800-123757400	Flanking Active TSS	Fetal Brain Male	brain
12	chr12:123756800-123757400	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:123756800-123757400	Flanking Active TSS	A549	lung
14	chr12:123756800-123757400	Flanking Active TSS	HSMMtube	muscle
15	chr12:123756800-123757400	Flanking Active TSS	NH-A	brain
16	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:123756800-123757600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:123756800-123757600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:123756800-123757600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:123756800-123757600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:123756800-123758000	Enhancers	Spleen	Spleen
22	chr12:123756800-123758200	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr12:123756800-123758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:123757000-123757400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:123757000-123757400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:123757000-123757400	Enhancers	Brain Angular Gyrus	brain
27	chr12:123757000-123757400	Enhancers	Fetal Heart	heart
28	chr12:123757000-123757600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:123757000-123757600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:123757000-123757800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:123757200-123757400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:123757200-123757400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:123757200-123757400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:123757200-123757400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:123757200-123757400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:123757200-123757400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr12:123757200-123757400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:123757200-123757400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:123757200-123757400	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:123757200-123757400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123757200-123757400	Flanking Active TSS	Fetal Brain Female	brain
42	chr12:123757200-123757400	Enhancers	HepG2	liver
43	chr12:123757200-123757400	Enhancers	HUVEC	blood vessel
44	chr12:123757200-123757600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:123757200-123757600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:123757200-123757600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:123757200-123757600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123757200-123757600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:123757200-123757600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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