Variant report

Variant	rs73013453
Chromosome Location	chr2:171998984-171998985
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr2:171998964-171999107	K562	blood:	n/a	n/a
2	MAFK	chr2:171998962-171999216	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:171998820-171999042	K562	blood:	n/a	n/a
4	MAFK	chr2:171998975-171999205	IMR90	lung:	n/a	n/a
5	POLR2A	chr2:171998591-171999056	K562	blood:	n/a	n/a
6	MAFK	chr2:171998980-171999172	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:171997092..171999725-chr2:172015431..172018449,4	MCF-7	breast:
2	chr2:171943630..171945702-chr2:171997919..172000356,2	K562	blood:
3	chr2:171985701..171988587-chr2:171997842..172000191,3	MCF-7	breast:
4	chr2:171998232..172000154-chr2:172289426..172292079,2	MCF-7	breast:
5	chr2:171992932..171995036-chr2:171997675..172000538,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238567	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10173931	0.92[EUR][1000 genomes]
rs1025241	0.80[AFR][1000 genomes]
rs10490606	0.80[AMR][1000 genomes]
rs13389859	1.00[EUR][1000 genomes]
rs16859087	0.92[EUR][1000 genomes]
rs16859121	0.92[EUR][1000 genomes]
rs16859167	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859176	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859177	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2356600	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2356609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723245	0.92[EUR][1000 genomes]
rs2723248	0.92[EUR][1000 genomes]
rs2723250	0.90[EUR][1000 genomes]
rs2883940	0.90[EUR][1000 genomes]
rs34518725	0.81[AFR][1000 genomes]
rs55644524	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55885449	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55939429	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995602	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55997598	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56004444	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134465	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56155163	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56155601	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56191582	0.90[EUR][1000 genomes]
rs56308745	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56382502	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56934523	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57173242	0.80[AMR][1000 genomes]
rs57733560	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58028937	0.81[EUR][1000 genomes]
rs58685348	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59841744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60396936	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60730419	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711423	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6722196	0.92[EUR][1000 genomes]
rs6722537	0.80[AFR][1000 genomes]
rs6736045	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746133	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6750585	0.90[EUR][1000 genomes]
rs73013435	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013436	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73013465	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73017249	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73027220	0.92[EUR][1000 genomes]
rs73029214	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73976125	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73976285	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591214	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9752051	0.82[AMR][1000 genomes];0.84[EUR][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	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171957200-172010400	Weak transcription	HSMM	muscle
3	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
6	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
10	chr2:171987400-171999400	Weak transcription	Spleen	Spleen
11	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:171988400-171999800	Enhancers	HepG2	liver
13	chr2:171989400-172007000	Weak transcription	Lung	lung
14	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:171992200-171999800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:171993800-172001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:171994000-172002200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:171994000-172010400	Weak transcription	Thymus	Thymus
21	chr2:171994200-171999000	Weak transcription	Stomach Mucosa	stomach
22	chr2:171994200-171999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:171994200-172002800	Weak transcription	Right Atrium	heart
24	chr2:171994200-172010400	Weak transcription	Ovary	ovary
25	chr2:171994800-172005400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:171995000-172001000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:171995200-171999800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:171995200-172004400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:171995400-172012200	Weak transcription	Dnd41	blood
30	chr2:171996400-171999200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:171996400-171999600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:171996600-171999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:171996600-171999400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:171996600-171999400	Weak transcription	Pancreas	Pancrea
35	chr2:171996600-172001400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:171996600-172006000	Weak transcription	Gastric	stomach
37	chr2:171996600-172015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:171996600-172015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:171996600-172015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:171996800-171999200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:171997000-171999400	Weak transcription	Left Ventricle	heart
42	chr2:171997000-171999600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:171997000-171999600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr2:171997000-172007600	Weak transcription	Placenta	Placenta
45	chr2:171997000-172010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:171997400-172001800	Enhancers	Liver	Liver
47	chr2:171997600-171999000	Enhancers	Osteobl	bone
48	chr2:171997600-171999400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:171997600-171999400	Enhancers	NHDF-Ad	bronchial
50	chr2:171997600-171999600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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