Variant report

Variant	rs66775912
Chromosome Location	chr2:113988729-113988730
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	TCF7L2	chr2:113988448-113988865	HEK293	kidney:	n/a	chr2:113988812-113988828 chr2:113988675-113988684 chr2:113988812-113988828 chr2:113988675-113988685 chr2:113988674-113988683 chr2:113988675-113988682
2	POLR2A	chr2:113988631-113989295	ECC-1	luminal epithelium:	n/a	n/a
3	RCOR1	chr2:113988720-113988752	K562	blood:	n/a	n/a
4	TCF7L2	chr2:113988467-113988974	PANC-1	pancreas:	n/a	chr2:113988812-113988828 chr2:113988675-113988684 chr2:113988812-113988828 chr2:113988675-113988685 chr2:113988674-113988683 chr2:113988675-113988682

No.	Distal block	Cell Line	Cell type
1	chr2:113967562..113969301-chr2:113988477..113990765,2	K562	blood:
2	chr2:113984662..113986882-chr2:113987458..113990023,3	MCF-7	breast:
3	chr2:113985857..113989130-chr2:113997597..114000334,4	MCF-7	breast:
4	chr2:113986423..113989095-chr2:113995942..113999878,3	K562	blood:
5	chr2:113985061..113989384-chr2:113997788..114002105,6	MCF-7	breast:
6	chr2:113983664..113985916-chr2:113988389..113990804,2	MCF-7	breast:
7	chr2:113987172..113989264-chr2:113991631..113994306,2	MCF-7	breast:
8	chr2:113988656..113991624-chr2:114097575..114099389,2	K562	blood:
9	chr2:113973569..113976891-chr2:113987783..113991644,3	MCF-7	breast:
10	chr2:113977742..113979788-chr2:113987673..113990478,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13405033	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431315	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35836064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45449699	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67081417	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs67776659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67802835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831810	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72831838	0.81[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	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:49 , 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	chr2:113983400-113989000	Weak transcription	Stomach Mucosa	stomach
6	chr2:113983400-113989200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:113983400-113991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:113983800-113989800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:113983800-113991800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:113984000-113990000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:113984000-113998000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:113984200-113989600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:113984400-113990200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113985000-113991600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:113985800-113990400	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:113985800-113990800	Enhancers	Fetal Heart	heart
17	chr2:113986000-113990600	Enhancers	Fetal Intestine Large	intestine
18	chr2:113986200-113990000	Weak transcription	Gastric	stomach
19	chr2:113986400-113989000	Weak transcription	Right Atrium	heart
20	chr2:113986800-113990400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:113987000-113989600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:113987000-113997000	Weak transcription	Hela-S3	cervix
23	chr2:113987200-113989000	Enhancers	Fetal Thymus	thymus
24	chr2:113987200-113990000	Weak transcription	A549	lung
25	chr2:113987200-113990400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:113987400-113988800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:113987600-113990400	Enhancers	Adipose Nuclei	Adipose
28	chr2:113987600-113992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:113987800-113989000	Weak transcription	Pancreas	Pancrea
30	chr2:113987800-113992800	Weak transcription	Fetal Kidney	kidney
31	chr2:113988000-113988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:113988000-113988800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:113988000-113988800	Weak transcription	Left Ventricle	heart
34	chr2:113988000-113988800	Weak transcription	Right Ventricle	heart
35	chr2:113988000-113989800	Weak transcription	Lung	lung
36	chr2:113988000-113989800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:113988000-113990000	Enhancers	Fetal Lung	lung
38	chr2:113988000-113990400	Weak transcription	Esophagus	oesophagus
39	chr2:113988200-113989200	Enhancers	Small Intestine	intestine
40	chr2:113988200-113990000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:113988200-113990600	Enhancers	K562	blood
42	chr2:113988400-113988800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:113988400-113989800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:113988400-113992600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:113988600-113988800	Enhancers	Osteobl	bone
46	chr2:113988600-113990200	Enhancers	Fetal Intestine Small	intestine
47	chr2:113988600-113990400	Weak transcription	Primary T cells from cord blood	blood
48	chr2:113988600-113991600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:113988600-113992600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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