Variant report

Variant	rs13384287
Chromosome Location	chr2:20809080-20809081
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	NFIC	chr2:20808992-20809568	SK-N-SH	brain:	n/a	chr2:20809273-20809290 chr2:20809273-20809289
2	ZNF263	chr2:20808953-20809552	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20650050..20652104-chr2:20806769..20809542,3	MCF-7	breast:
2	chr2:20807683..20810867-chr2:20811760..20818347,7	MCF-7	breast:
3	chr2:20647548..20649873-chr2:20806616..20809120,2	MCF-7	breast:
4	chr2:20792451..20795082-chr2:20807654..20810315,4	MCF-7	breast:
5	chr2:20803088..20804929-chr2:20807955..20810549,2	K562	blood:
6	chr2:20807940..20810895-chr2:20811294..20813861,2	K562	blood:

Variant related genes	Relation type
ENSG00000233416	TF binding region
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10166284	1.00[AMR][1000 genomes]
rs10174106	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190590	0.85[YRI][hapmap]
rs10192211	1.00[AMR][1000 genomes]
rs10210354	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408717	1.00[AMR][1000 genomes]
rs13423795	1.00[AMR][1000 genomes]
rs57047236	1.00[AMR][1000 genomes]
rs59961647	1.00[AMR][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:69 , 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	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
5	chr2:20800000-20809200	Weak transcription	Aorta	Aorta
6	chr2:20800000-20809400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:20800400-20809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:20803200-20814000	Weak transcription	HSMM	muscle
9	chr2:20804400-20813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:20805200-20813600	Weak transcription	HMEC	breast
11	chr2:20805200-20813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:20805200-20814000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:20805200-20816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:20806400-20809400	Weak transcription	Small Intestine	intestine
15	chr2:20808400-20809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:20808400-20809800	Enhancers	Brain Angular Gyrus	brain
17	chr2:20808400-20810000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:20808400-20810000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:20808400-20810000	Enhancers	Osteobl	bone
20	chr2:20808400-20810200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:20808400-20810600	Enhancers	HepG2	liver
22	chr2:20808400-20811800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:20808400-20811800	Enhancers	Fetal Intestine Large	intestine
24	chr2:20808400-20811800	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:20808400-20813600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:20808400-20814200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:20808400-20816400	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:20808400-20816600	Enhancers	Colon Smooth Muscle	Colon
29	chr2:20808400-20816800	Enhancers	Adipose Nuclei	Adipose
30	chr2:20808400-20819600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:20808600-20809600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:20808600-20809600	Enhancers	Placenta	Placenta
33	chr2:20808600-20810000	Enhancers	Fetal Brain Male	brain
34	chr2:20808600-20810000	Enhancers	Lung	lung
35	chr2:20808600-20810000	Enhancers	Psoas Muscle	Psoas
36	chr2:20808600-20810000	Enhancers	NH-A	brain
37	chr2:20808600-20810000	Enhancers	NHDF-Ad	bronchial
38	chr2:20808600-20811800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:20808600-20812000	Enhancers	Fetal Stomach	stomach
40	chr2:20808600-20812000	Enhancers	Left Ventricle	heart
41	chr2:20808600-20812000	Enhancers	Right Atrium	heart
42	chr2:20808600-20812000	Enhancers	Right Ventricle	heart
43	chr2:20808600-20812000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:20808600-20812400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:20808600-20818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:20808600-20819400	Enhancers	Brain Anterior Caudate	brain
47	chr2:20808600-20819800	Enhancers	Brain Substantia Nigra	brain
48	chr2:20808800-20809200	Genic enhancers	Fetal Intestine Small	intestine
49	chr2:20808800-20809600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:20808800-20809600	Enhancers	Cortex derived primary cultured neurospheres	brain

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