Variant report

Variant	rs535302952
Chromosome Location	chr12:1704961-1704962
allele	A/G
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	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
2	CUX1	chr12:1704697-1705032	K562	blood:	n/a	n/a
3	POLR2A	chr12:1701484-1705051	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
2	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
3	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
4	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:

Variant related genes	Relation type
FBXL14	TF binding region
ENSG00000111186	Chromatin interaction
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv556986	chr12:1702470-1705852	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3403028	chr12:1702616-1704989	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1702400-1705000	Active TSS	Right Atrium	heart
2	chr12:1702600-1705200	Active TSS	Aorta	Aorta
3	chr12:1702800-1705000	Active TSS	HSMMtube	muscle
4	chr12:1704000-1705000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr12:1704000-1705600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:1704200-1705000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:1704200-1705000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:1704200-1705000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr12:1704200-1705000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr12:1704200-1705000	Flanking Active TSS	HSMM	muscle
11	chr12:1704200-1705000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:1704200-1705000	Flanking Active TSS	NHDF-Ad	bronchial
13	chr12:1704200-1705000	Flanking Active TSS	NHLF	lung
14	chr12:1704200-1705200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:1704200-1705400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:1704200-1705600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr12:1704200-1705600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr12:1704200-1705600	Flanking Active TSS	Osteobl	bone
19	chr12:1704400-1705000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr12:1704400-1705000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:1704400-1705000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr12:1704400-1705000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr12:1704400-1705000	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr12:1704400-1705000	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr12:1704400-1705000	Flanking Active TSS	Fetal Kidney	kidney
26	chr12:1704400-1705000	Flanking Active TSS	Fetal Lung	lung
27	chr12:1704400-1706200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:1704600-1705000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:1704600-1705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:1704600-1705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:1704600-1705000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr12:1704600-1705000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:1704600-1705000	Enhancers	Fetal Intestine Small	intestine
34	chr12:1704600-1705000	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr12:1704600-1705000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr12:1704600-1705000	Flanking Active TSS	K562	blood
37	chr12:1704600-1705200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:1704600-1705200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:1704600-1705600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:1704600-1710800	Weak transcription	Ovary	ovary
41	chr12:1704800-1705000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:1704800-1705000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr12:1704800-1705000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
44	chr12:1704800-1705000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:1704800-1705000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:1704800-1705000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr12:1704800-1705000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr12:1704800-1705000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr12:1704800-1705000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:1704800-1705000	Enhancers	Primary monocytes fromperipheralblood	blood

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