Variant report

Variant	rs72863607
Chromosome Location	chr2:36594613-36594614
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr2:36594578-36595731	A549	lung:	n/a	n/a
2	TEAD4	chr2:36594601-36595487	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:36594564-36594996	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:36594529-36597598	IMR90	lung:	n/a	n/a
5	GATA3	chr2:36593488-36595730	SK-N-SH	brain:	n/a	chr2:36594849-36594859
6	POLR2A	chr2:36594531-36595831	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr2:36594515-36595675	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:36594552-36595657	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:36593640-36596146	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:36593549-36595941	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr2:36593750-36597273	A549	lung:	n/a	n/a
12	POLR2A	chr2:36593233-36602259	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:36594518-36594856	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:36594563-36595030	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr2:36594581-36595724	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr2:36593053-36597288	SK-N-SH	brain:	n/a	n/a
17	FOXA1	chr2:36594543-36595102	HepG2	liver:	n/a	n/a
18	EP300	chr2:36594558-36595344	HepG2	liver:	n/a	chr2:36594794-36594808
19	FOXA1	chr2:36594540-36595014	HepG2	liver:	n/a	n/a
20	MYBL2	chr2:36594549-36595176	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36594282..36595810-chr2:36601465..36603754,2	MCF-7	breast:
2	chr2:36593697..36595696-chr2:36635356..36637149,2	MCF-7	breast:
3	chr2:36585288..36588127-chr2:36593960..36595657,2	MCF-7	breast:
4	chr2:36582061..36584144-chr2:36592487..36595427,3	MCF-7	breast:

No data

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000150938	Chromatin interaction
ENSG00000260025	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72863613	1.00[AFR][1000 genomes]
rs72863617	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:36589400-36594800	Weak transcription	Fetal Brain Female	brain
7	chr2:36589600-36595000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:36589800-36594800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:36589800-36594800	Enhancers	Adipose Nuclei	Adipose
10	chr2:36589800-36596200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:36589800-36596400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:36590000-36594800	Weak transcription	Stomach Mucosa	stomach
13	chr2:36590000-36598200	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr2:36590600-36594800	Enhancers	Hela-S3	cervix
15	chr2:36590800-36597200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:36591000-36595200	Weak transcription	Esophagus	oesophagus
17	chr2:36591200-36594800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:36591400-36595000	Weak transcription	Spleen	Spleen
19	chr2:36591600-36595000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:36592000-36594800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:36592200-36595000	Weak transcription	Colonic Mucosa	Colon
22	chr2:36592200-36595600	Enhancers	Placenta	Placenta
23	chr2:36592400-36599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:36592600-36594800	Enhancers	HepG2	liver
26	chr2:36592600-36596400	Enhancers	HSMMtube	muscle
27	chr2:36592600-36596600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:36592600-36597200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:36592600-36597200	Enhancers	Right Atrium	heart
30	chr2:36592800-36598200	Enhancers	NHDF-Ad	bronchial
31	chr2:36593200-36594800	Weak transcription	Left Ventricle	heart
32	chr2:36593200-36595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:36593200-36595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:36593200-36595000	Weak transcription	Aorta	Aorta
35	chr2:36593200-36595000	Weak transcription	Lung	lung
36	chr2:36593200-36595200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:36593200-36595200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:36593200-36596000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:36593200-36596400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:36593200-36598000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:36593200-36598000	Genic enhancers	HSMM	muscle
42	chr2:36593400-36594800	Flanking Active TSS	A549	lung
43	chr2:36593400-36595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:36593400-36599400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:36593400-36601800	Enhancers	Fetal Lung	lung
46	chr2:36593600-36594800	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:36593600-36595200	Flanking Active TSS	HUVEC	blood vessel
48	chr2:36593600-36595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:36593600-36595600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:36593600-36596000	Enhancers	Duodenum Smooth Muscle	Duodenum

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