Variant report

Variant	rs72731970
Chromosome Location	chr15:57456866-57456867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57455822..57459660-chr15:57459793..57463259,4	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11071307	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11071310	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11636655	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12324235	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593843	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17239222	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17239459	0.82[AFR][1000 genomes]
rs17819940	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17820018	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17820095	0.86[AFR][1000 genomes]
rs1870870	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2126402	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2169468	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2248620	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2252289	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2290939	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2431032	0.86[AFR][1000 genomes]
rs2440972	0.86[AFR][1000 genomes]
rs2591062	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2591066	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2593217	0.87[EUR][1000 genomes]
rs2593221	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2593223	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2593233	0.81[EUR][1000 genomes]
rs2703588	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2703599	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2703600	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2733187	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2733304	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2733309	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2733318	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2733320	0.81[EUR][1000 genomes]
rs2920270	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2921430	0.86[AFR][1000 genomes]
rs2951902	0.86[EUR][1000 genomes]
rs2957578	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2957592	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2962995	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3794617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56151428	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165729	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7167268	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7180513	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7182188	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72731924	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72731934	0.89[EUR][1000 genomes]
rs72731958	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72731960	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72731964	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72731974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72731986	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs734033	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8024830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8042190	0.92[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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:57444400-57459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:57444400-57459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
6	chr15:57444400-57507400	Weak transcription	K562	blood
7	chr15:57444600-57458000	Weak transcription	Dnd41	blood
8	chr15:57444600-57458400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:57444600-57459000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:57444600-57459600	Weak transcription	Liver	Liver
11	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:57444800-57458600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:57444800-57458800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:57444800-57458800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:57445000-57461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:57445200-57466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:57445400-57458800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:57445600-57458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:57445600-57459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:57445600-57461400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:57446000-57468400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:57446200-57458800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:57446600-57459600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:57447200-57458200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:57447800-57466000	Weak transcription	Pancreas	Pancrea
30	chr15:57448000-57465600	Weak transcription	Right Ventricle	heart
31	chr15:57448000-57483800	Weak transcription	Lung	lung
32	chr15:57448800-57460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:57448800-57463400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:57449000-57458600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:57450800-57459400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:57450800-57469000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
38	chr15:57451000-57458000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:57451000-57464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:57451000-57477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:57451000-57487800	Weak transcription	Psoas Muscle	Psoas
42	chr15:57451000-57490800	Weak transcription	NHEK	skin
43	chr15:57451200-57459200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:57451200-57463600	Weak transcription	Hela-S3	cervix
45	chr15:57451200-57470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:57451200-57475000	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:57451200-57475400	Weak transcription	Adipose Nuclei	Adipose
48	chr15:57451200-57478600	Weak transcription	HMEC	breast
49	chr15:57451200-57484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr15:57451200-57484200	Weak transcription	Esophagus	oesophagus

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