Variant report

Variant	rs2080947
Chromosome Location	chr5:95192776-95192777
allele	C/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	ZNF384	chr5:95192667-95192990	K562	blood:	n/a	n/a
2	MBD4	chr5:95192672-95193509	HepG2	liver:	n/a	n/a
3	TEAD4	chr5:95192743-95193492	HepG2	liver:	n/a	chr5:95192971-95192980
4	HDAC2	chr5:95192743-95193405	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:95192739-95193266	HepG2	liver:	n/a	n/a
6	MAX	chr5:95192757-95193763	HepG2	liver:	n/a	chr5:95193307-95193316
7	MAX	chr5:95192766-95193704	HepG2	liver:	n/a	chr5:95193307-95193316
8	NR2F2	chr5:95192761-95193664	HepG2	liver:	n/a	n/a
9	MAZ	chr5:95192747-95195753	IMR90	lung:	n/a	chr5:95193307-95193316

No.	Distal block	Cell Line	Cell type
1	chr5:95187602..95189431-chr5:95191166..95193314,2	K562	blood:
2	chr5:95065746..95068516-chr5:95192441..95195088,2	K562	blood:
3	chr5:95191104..95193650-chr5:95201052..95202970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250362	TF binding region
ENSG00000251409	TF binding region
ENSG00000236882	Chromatin interaction
ENSG00000251409	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10044151	1.00[CHB][hapmap];0.80[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11135436	0.84[CHD][hapmap]
rs17085176	0.81[CHD][hapmap]
rs2546195	0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs60436833	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs889300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95185000-95193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:95186600-95192800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
6	chr5:95188600-95194400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:95188800-95192800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:95188800-95193000	Weak transcription	Stomach Mucosa	stomach
9	chr5:95189400-95193400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:95191000-95194200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95191000-95194200	Enhancers	Brain Hippocampus Middle	brain
12	chr5:95191000-95194200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:95191000-95194200	Enhancers	Brain Substantia Nigra	brain
14	chr5:95191000-95194400	Enhancers	Brain Angular Gyrus	brain
15	chr5:95191200-95193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:95191200-95193400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95191200-95194200	Enhancers	Brain Anterior Caudate	brain
18	chr5:95191200-95194200	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:95191200-95194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:95191800-95193600	Enhancers	Right Ventricle	heart
21	chr5:95191800-95194000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:95191800-95194400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:95192000-95201400	Enhancers	Placenta	Placenta
26	chr5:95192200-95192800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:95192200-95192800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:95192200-95192800	Enhancers	Psoas Muscle	Psoas
29	chr5:95192200-95193400	Weak transcription	Fetal Kidney	kidney
30	chr5:95192200-95193400	Enhancers	Fetal Muscle Trunk	muscle
31	chr5:95192200-95193400	Enhancers	HepG2	liver
32	chr5:95192200-95193600	Enhancers	NHLF	lung
33	chr5:95192200-95193800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:95192200-95194200	Enhancers	Adipose Nuclei	Adipose
35	chr5:95192200-95194200	Weak transcription	Fetal Brain Male	brain
36	chr5:95192200-95194400	Enhancers	Esophagus	oesophagus
37	chr5:95192200-95194400	Enhancers	Pancreas	Pancrea
38	chr5:95192200-95194400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:95192200-95194600	Enhancers	Left Ventricle	heart
40	chr5:95192200-95194600	Enhancers	Ovary	ovary
41	chr5:95192200-95194800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:95192200-95195000	Enhancers	Lung	lung
43	chr5:95192200-95195000	Enhancers	Right Atrium	heart
44	chr5:95192200-95195800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:95192200-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:95192400-95192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:95192400-95193200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:95192400-95193400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:95192400-95194400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:95192400-95195400	Weak transcription	Small Intestine	intestine

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