Variant report

Variant	rs73607803
Chromosome Location	chr12:1706052-1706053
allele	C/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	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
2	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10848534	1.00[EUR][1000 genomes]
rs11061875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11503087	1.00[EUR][1000 genomes]
rs11836960	1.00[EUR][1000 genomes]
rs11838210	1.00[EUR][1000 genomes]
rs12311264	1.00[EUR][1000 genomes]
rs13377750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58275451	1.00[EUR][1000 genomes]
rs7306444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312449	1.00[EUR][1000 genomes]
rs73605897	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73605900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607820	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1704400-1706200	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr12:1704600-1710800	Weak transcription	Ovary	ovary
3	chr12:1704800-1706200	Enhancers	NH-A	brain
4	chr12:1704800-1710200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:1704800-1710200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:1704800-1710200	Weak transcription	Colonic Mucosa	Colon
7	chr12:1704800-1710400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:1704800-1710600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:1704800-1710600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:1704800-1710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:1704800-1710800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
14	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:1705000-1706200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr12:1705000-1706400	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:1705000-1710200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:1705000-1710200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:1705000-1710200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:1705000-1710200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:1705000-1710200	Weak transcription	Dnd41	blood
23	chr12:1705000-1710400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:1705000-1710400	Weak transcription	Primary B cells from cord blood	blood
25	chr12:1705000-1710400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:1705000-1710400	Weak transcription	HUVEC	blood vessel
27	chr12:1705000-1710600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:1705000-1710600	Weak transcription	GM12878-XiMat	blood
29	chr12:1705000-1713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:1705000-1713800	Weak transcription	HMEC	breast
31	chr12:1705200-1706200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:1705200-1706200	Genic enhancers	NHDF-Ad	bronchial
33	chr12:1705200-1710000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:1705200-1710000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:1705200-1710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:1705200-1710400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:1705200-1710400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:1705200-1710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:1705200-1710600	Weak transcription	A549	lung
40	chr12:1705200-1713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:1705400-1710200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:1705400-1710200	Weak transcription	Fetal Thymus	thymus
43	chr12:1705400-1710400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:1705400-1710400	Weak transcription	Thymus	Thymus
45	chr12:1705400-1710400	Weak transcription	HSMM	muscle
46	chr12:1705400-1710400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:1705400-1713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:1705600-1706200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:1705600-1706200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:1705600-1706200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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