Variant report

Variant	rs72717352
Chromosome Location	chr1:93710223-93710224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93702441..93705193-chr1:93708597..93710814,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1064797	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164922	0.81[EUR][1000 genomes]
rs12404947	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12405666	0.97[EUR][1000 genomes]
rs12409621	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12411095	0.81[EUR][1000 genomes]
rs17131703	0.95[EUR][1000 genomes]
rs17131705	0.95[EUR][1000 genomes]
rs17131709	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131710	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131718	0.81[EUR][1000 genomes]
rs17131741	0.81[EUR][1000 genomes]
rs17386609	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2749734	0.92[EUR][1000 genomes]
rs2785602	0.92[EUR][1000 genomes]
rs2785605	0.92[EUR][1000 genomes]
rs2815419	0.92[EUR][1000 genomes]
rs2815423	0.92[EUR][1000 genomes]
rs2815424	0.94[EUR][1000 genomes]
rs41286823	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41292137	1.00[EUR][1000 genomes]
rs4240965	0.85[EUR][1000 genomes]
rs4347219	0.97[EUR][1000 genomes]
rs475120	0.95[EUR][1000 genomes]
rs488345	0.94[EUR][1000 genomes]
rs495580	0.94[EUR][1000 genomes]
rs500349	0.94[EUR][1000 genomes]
rs502651	0.83[EUR][1000 genomes]
rs519319	0.94[EUR][1000 genomes]
rs539544	0.92[EUR][1000 genomes]
rs548751	0.94[EUR][1000 genomes]
rs571439	0.95[EUR][1000 genomes]
rs574687	0.95[EUR][1000 genomes]
rs57992499	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs580828	0.92[EUR][1000 genomes]
rs60013975	0.81[EUR][1000 genomes]
rs60458375	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61101021	0.81[EUR][1000 genomes]
rs61433067	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604042	0.95[EUR][1000 genomes]
rs66501175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66804824	0.81[EUR][1000 genomes]
rs6689007	0.94[EUR][1000 genomes]
rs67002303	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703169	0.91[EUR][1000 genomes]
rs67262037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67337461	1.00[EUR][1000 genomes]
rs67395827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67711178	0.94[EUR][1000 genomes]
rs67723709	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67768103	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67992203	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67998457	0.81[EUR][1000 genomes]
rs72715364	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715394	0.97[EUR][1000 genomes]
rs72717318	0.95[EUR][1000 genomes]
rs72717334	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717337	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72717354	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72717374	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72719120	1.00[EUR][1000 genomes]
rs72955366	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72955388	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72959223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72959288	1.00[EUR][1000 genomes]
rs72959296	0.97[EUR][1000 genomes]
rs797594	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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:93688200-93714800	Weak transcription	HSMMtube	muscle
5	chr1:93690400-93729400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
7	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93704200-93729800	Weak transcription	Hela-S3	cervix
9	chr1:93704800-93710800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:93706400-93727000	Weak transcription	K562	blood
11	chr1:93706600-93717200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:93707000-93727400	Weak transcription	Liver	Liver
13	chr1:93708600-93714200	Weak transcription	Small Intestine	intestine
14	chr1:93708800-93720200	Weak transcription	NHLF	lung
15	chr1:93709000-93712600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:93709000-93714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:93709000-93714600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:93709000-93717000	Weak transcription	Fetal Lung	lung
19	chr1:93709000-93717400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:93709000-93717600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:93709000-93717600	Weak transcription	Ovary	ovary
22	chr1:93709000-93718200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:93709000-93718200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:93709000-93718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:93709000-93718400	Weak transcription	Aorta	Aorta
26	chr1:93709000-93719000	Weak transcription	NHDF-Ad	bronchial
27	chr1:93709000-93719800	Weak transcription	HSMM	muscle
28	chr1:93709000-93720800	Weak transcription	Osteobl	bone
29	chr1:93709000-93724200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:93709000-93726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:93709000-93727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:93709000-93728200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:93709000-93728200	Weak transcription	HMEC	breast
34	chr1:93709200-93711000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:93709200-93712600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:93709200-93716400	Weak transcription	GM12878-XiMat	blood
37	chr1:93709200-93717600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:93709200-93718200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:93709200-93718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:93709200-93718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:93709200-93718400	Weak transcription	Fetal Stomach	stomach
42	chr1:93709200-93727400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:93709400-93712400	Weak transcription	Dnd41	blood
44	chr1:93709400-93712600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:93709400-93715800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:93709400-93715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:93709400-93718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:93709400-93718400	Weak transcription	Fetal Thymus	thymus
49	chr1:93709400-93718400	Weak transcription	A549	lung
50	chr1:93709400-93727600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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