Variant report

Variant	rs4869253
Chromosome Location	chr5:95193862-95193863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:95193771-95195542	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr5:95193720-95195741	SK-N-SH	brain:	n/a	n/a
3	SMARCC1	chr5:95193756-95196313	Hela-S3	cervix:	n/a	n/a
4	PBX3	chr5:95193812-95195181	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr5:95193203-95198379	IMR90	lung:	n/a	n/a
6	RCOR1	chr5:95193820-95193914	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:95193828-95193996	HepG2	liver:	n/a	n/a
8	PBX3	chr5:95193762-95195183	SK-N-SH	brain:	n/a	n/a
9	MYBL2	chr5:95192829-95194051	HepG2	liver:	n/a	n/a
10	CEBPB	chr5:95193757-95195353	IMR90	lung:	n/a	n/a
11	EP300	chr5:95193766-95195581	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr5:95193722-95195276	U87	brain:	n/a	n/a
13	POLR2A	chr5:95193696-95201073	MCF10A-Er-Src	breast:	n/a	n/a
14	SMC3	chr5:95193747-95195132	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr5:95193792-95195505	SK-N-SH	brain:	n/a	n/a
16	MAZ	chr5:95192747-95195753	IMR90	lung:	n/a	chr5:95193307-95193316

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95065746..95068516-chr5:95192441..95195088,2	K562	blood:
2	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:
3	chr5:95193159..95197035-chr5:95199083..95201765,3	K562	blood:
4	chr5:95170114..95172338-chr5:95193145..95195226,2	MCF-7	breast:
5	chr5:95193414..95195119-chr5:95295592..95298550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250362	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000251000	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000251314	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10040697	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95186400-95194200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
4	chr5:95188600-95194400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:95191000-95194200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:95191000-95194200	Enhancers	Brain Hippocampus Middle	brain
7	chr5:95191000-95194200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:95191000-95194200	Enhancers	Brain Substantia Nigra	brain
9	chr5:95191000-95194400	Enhancers	Brain Angular Gyrus	brain
10	chr5:95191200-95194200	Enhancers	Brain Anterior Caudate	brain
11	chr5:95191200-95194200	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:95191200-95194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:95191800-95194000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:95191800-95194400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:95192000-95201400	Enhancers	Placenta	Placenta
18	chr5:95192200-95194200	Enhancers	Adipose Nuclei	Adipose
19	chr5:95192200-95194200	Weak transcription	Fetal Brain Male	brain
20	chr5:95192200-95194400	Enhancers	Esophagus	oesophagus
21	chr5:95192200-95194400	Enhancers	Pancreas	Pancrea
22	chr5:95192200-95194400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:95192200-95194600	Enhancers	Left Ventricle	heart
24	chr5:95192200-95194600	Enhancers	Ovary	ovary
25	chr5:95192200-95194800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:95192200-95195000	Enhancers	Lung	lung
27	chr5:95192200-95195000	Enhancers	Right Atrium	heart
28	chr5:95192200-95195800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:95192200-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:95192400-95194400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:95192400-95195400	Weak transcription	Small Intestine	intestine
32	chr5:95192400-95199200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:95192800-95194200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:95192800-95194200	Enhancers	Aorta	Aorta
35	chr5:95192800-95194200	Enhancers	Colonic Mucosa	Colon
36	chr5:95192800-95194200	Enhancers	Colon Smooth Muscle	Colon
37	chr5:95192800-95194200	Enhancers	HSMM	muscle
38	chr5:95192800-95194400	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:95192800-95194600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:95192800-95194600	Enhancers	HUVEC	blood vessel
41	chr5:95193000-95194000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:95193000-95194000	Enhancers	Gastric	stomach
43	chr5:95193000-95194200	Enhancers	HSMMtube	muscle
44	chr5:95193000-95194600	Enhancers	Fetal Stomach	stomach
45	chr5:95193000-95195000	Enhancers	Stomach Mucosa	stomach
46	chr5:95193000-95196400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:95193200-95194200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:95193200-95194400	Weak transcription	Fetal Intestine Small	intestine
49	chr5:95193200-95194400	Enhancers	Psoas Muscle	Psoas
50	chr5:95193200-95194600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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