Variant report

Variant	rs55766730
Chromosome Location	chr2:20810024-20810025
allele	A/C
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	HNF4A	chr2:20809636-20810075	HepG2	liver:	n/a	chr2:20809860-20809875
2	HNF4G	chr2:20809739-20810086	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20807683..20810867-chr2:20811760..20818347,7	MCF-7	breast:
2	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
3	chr2:20803088..20804929-chr2:20807955..20810549,2	K562	blood:
4	chr2:20807940..20810895-chr2:20811294..20813861,2	K562	blood:

Variant related genes	Relation type
ENSG00000233416	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16987945	0.95[ASN][1000 genomes]
rs4426492	0.91[ASN][1000 genomes]
rs60631754	0.87[ASN][1000 genomes]
rs62122090	0.91[ASN][1000 genomes]
rs62122091	0.91[ASN][1000 genomes]
rs62125672	0.87[ASN][1000 genomes]
rs62125673	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62125674	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62125675	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62125676	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62125677	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708069	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72784303	0.91[ASN][1000 genomes]
rs73916930	0.91[ASN][1000 genomes]
rs73916931	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
2	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
3	chr2:20797800-20810800	Weak transcription	Gastric	stomach
4	chr2:20803200-20814000	Weak transcription	HSMM	muscle
5	chr2:20804400-20813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20805200-20813600	Weak transcription	HMEC	breast
7	chr2:20805200-20813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:20805200-20814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:20808400-20810200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:20808400-20810600	Enhancers	HepG2	liver
12	chr2:20808400-20811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:20808400-20811800	Enhancers	Fetal Intestine Large	intestine
14	chr2:20808400-20811800	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:20808400-20813600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:20808400-20814200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:20808400-20816400	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:20808400-20816600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:20808400-20816800	Enhancers	Adipose Nuclei	Adipose
20	chr2:20808400-20819600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:20808600-20811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:20808600-20812000	Enhancers	Fetal Stomach	stomach
23	chr2:20808600-20812000	Enhancers	Left Ventricle	heart
24	chr2:20808600-20812000	Enhancers	Right Atrium	heart
25	chr2:20808600-20812000	Enhancers	Right Ventricle	heart
26	chr2:20808600-20812000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:20808600-20812400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:20808600-20818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:20808600-20819400	Enhancers	Brain Anterior Caudate	brain
30	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
31	chr2:20808800-20811800	Enhancers	NHLF	lung
32	chr2:20808800-20812000	Enhancers	Ovary	ovary
33	chr2:20809000-20817200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:20809200-20811600	Enhancers	K562	blood
35	chr2:20809200-20811800	Enhancers	Liver	Liver
36	chr2:20809200-20811800	Enhancers	Fetal Intestine Small	intestine
37	chr2:20809200-20812000	Enhancers	Stomach Mucosa	stomach
38	chr2:20809200-20813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:20809400-20810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:20809400-20810800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:20809400-20811400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:20809400-20816200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:20809600-20810600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:20809600-20810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:20809600-20810800	Weak transcription	Placenta	Placenta
46	chr2:20809600-20811000	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:20809600-20811200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:20809600-20812600	Weak transcription	Fetal Brain Female	brain
49	chr2:20809600-20813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:20809600-20813400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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