Variant report

Variant	rs10206396
Chromosome Location	chr2:113990555-113990556
allele	C/T
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	POLR2A	chr2:113989546-113990599	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr2:113990371-113990704	HepG2	liver:	n/a	chr2:113990553-113990566
3	CEBPB	chr2:113990400-113990605	K562	blood:	n/a	chr2:113990553-113990566
4	CEBPB	chr2:113990415-113990601	HepG2	liver:	n/a	chr2:113990553-113990566
5	CEBPB	chr2:113990372-113990672	K562	blood:	n/a	chr2:113990553-113990566
6	CEBPB	chr2:113990405-113990604	IMR90	lung:	n/a	chr2:113990553-113990566
7	CEBPB	chr2:113990508-113990596	H1-hESC	embryonic stem cell:	n/a	chr2:113990553-113990566
8	CEBPB	chr2:113990402-113990622	A549	lung:	n/a	chr2:113990553-113990566
9	POLR2A	chr2:113989518-113990848	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr2:113990396-113990604	Hela-S3	cervix:	n/a	chr2:113990553-113990566
11	CEBPB	chr2:113990378-113990619	K562	blood:	n/a	chr2:113990553-113990566
12	POLR2A	chr2:113990362-113990631	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113967562..113969301-chr2:113988477..113990765,2	K562	blood:
2	chr2:113989960..113991751-chr2:113992616..113994483,2	MCF-7	breast:
3	chr2:113967652..113970571-chr2:113989654..113991631,2	MCF-7	breast:
4	chr2:113983664..113985916-chr2:113988389..113990804,2	MCF-7	breast:
5	chr2:113989082..113991466-chr2:113996381..113998842,2	K562	blood:
6	chr2:113988656..113991624-chr2:114097575..114099389,2	K562	blood:
7	chr2:113973569..113976891-chr2:113987783..113991644,3	MCF-7	breast:

Variant related genes	Relation type
PAX8-AS1	TF binding region
ENSG00000189223	Chromatin interaction
ENSG00000258395	Chromatin interaction
ENSG00000125618	Chromatin interaction

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

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

rs_ID	r²[population]
rs11886592	0.81[AFR][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	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113978200-113991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113980200-113991600	Weak transcription	Spleen	Spleen
3	chr2:113982600-113992600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:113982800-113990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:113983400-113991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:113983800-113991800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:113984000-113998000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:113985000-113991600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:113985800-113990800	Enhancers	Fetal Heart	heart
10	chr2:113986000-113990600	Enhancers	Fetal Intestine Large	intestine
11	chr2:113987000-113997000	Weak transcription	Hela-S3	cervix
12	chr2:113987600-113992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:113987800-113992800	Weak transcription	Fetal Kidney	kidney
14	chr2:113988200-113990600	Enhancers	K562	blood
15	chr2:113988400-113992600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:113988600-113991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:113988600-113992600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:113988800-113990600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:113988800-113990600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:113988800-113990600	Enhancers	Right Ventricle	heart
21	chr2:113988800-113992400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:113988800-113992600	Weak transcription	Osteobl	bone
23	chr2:113989000-113990600	Enhancers	Right Atrium	heart
24	chr2:113989000-113991400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:113989000-113992400	Weak transcription	Fetal Thymus	thymus
26	chr2:113989000-113992600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:113989200-113991800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:113989600-113990600	Enhancers	Placenta	Placenta
29	chr2:113989600-113992600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:113989800-113990600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:113989800-113990600	Enhancers	HSMM	muscle
32	chr2:113989800-113991200	Enhancers	HepG2	liver
33	chr2:113990000-113992000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:113990200-113990600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:113990200-113991200	Weak transcription	Fetal Intestine Small	intestine
36	chr2:113990200-113992600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:113990400-113990600	Enhancers	Esophagus	oesophagus
38	chr2:113990400-113991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:113990400-113991400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:113990400-113991400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:113990400-113991400	Weak transcription	Left Ventricle	heart
42	chr2:113990400-113991400	Weak transcription	HSMMtube	muscle
43	chr2:113990400-113991600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:113990400-113991600	Weak transcription	A549	lung
45	chr2:113990400-113991800	Weak transcription	Pancreas	Pancrea
46	chr2:113990400-113992400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:113990400-113992400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:113990400-113992600	Weak transcription	Lung	lung
49	chr2:113990400-113992600	Weak transcription	Stomach Mucosa	stomach
50	chr2:113990400-113992600	Weak transcription	Monocytes-CD14+_RO01746	blood

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