Variant report

Variant	rs73410971
Chromosome Location	chr15:43044027-43044028
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43042004..43045508-chr15:43046491..43050155,3	K562	blood:
2	chr15:43021475..43023961-chr15:43043759..43045858,2	K562	blood:
3	chr15:43033733..43038217-chr15:43039920..43044631,5	K562	blood:
4	chr15:43044008..43046393-chr15:43047773..43049596,2	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11632809	0.88[AFR][1000 genomes]
rs12323990	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12324135	0.87[EUR][1000 genomes]
rs12591415	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12592374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594325	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594724	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594725	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	0.98[ASN][1000 genomes]
rs12595722	0.83[ASN][1000 genomes]
rs16957043	0.87[EUR][1000 genomes]
rs16957055	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957061	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16957063	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	0.87[EUR][1000 genomes]
rs28431056	1.00[ASN][1000 genomes]
rs28437884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542286	0.89[AFR][1000 genomes]
rs28661826	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28680600	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	1.00[EUR][1000 genomes]
rs34302400	0.88[AFR][1000 genomes]
rs3742992	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742995	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56046122	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58548142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60723187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs7169231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7169238	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7178483	1.00[EUR][1000 genomes]
rs7181238	0.87[AFR][1000 genomes]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[EUR][1000 genomes]
rs73410923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73410927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410959	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	1.00[EUR][1000 genomes]
rs8028365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028699	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036733	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042980	0.85[AFR][1000 genomes]
rs8043143	1.00[EUR][1000 genomes]
rs9920562	0.88[AFR][1000 genomes]
rs9944270	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029400-43051200	Weak transcription	Spleen	Spleen
2	chr15:43029600-43045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43029800-43044200	Weak transcription	Fetal Brain Male	brain
4	chr15:43029800-43047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:43029800-43047800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:43029800-43050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:43029800-43051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:43029800-43051200	Weak transcription	Esophagus	oesophagus
9	chr15:43029800-43051200	Weak transcription	Gastric	stomach
10	chr15:43029800-43051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
12	chr15:43030000-43044200	Weak transcription	HSMM	muscle
13	chr15:43030000-43044200	Weak transcription	Osteobl	bone
14	chr15:43030000-43044400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:43030000-43044400	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:43030000-43045400	Weak transcription	NHLF	lung
17	chr15:43030000-43047800	Weak transcription	HMEC	breast
18	chr15:43030000-43051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:43030000-43051400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:43030000-43051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:43030000-43053200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:43030000-43053200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:43030000-43053800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:43030000-43066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr15:43030000-43067200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
27	chr15:43030200-43044200	Weak transcription	K562	blood
28	chr15:43030200-43044200	Weak transcription	NHDF-Ad	bronchial
29	chr15:43030200-43052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:43038200-43055200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:43038400-43045600	Weak transcription	HUVEC	blood vessel
32	chr15:43038400-43051200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:43038400-43051200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:43038400-43067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:43041200-43045800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:43041200-43046000	Strong transcription	Primary T cells from cord blood	blood
37	chr15:43041200-43046200	Strong transcription	Primary B cells from cord blood	blood
38	chr15:43041400-43046200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:43041600-43045400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:43041600-43045400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr15:43041600-43045800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:43041600-43046000	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:43041800-43045400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:43041800-43051000	Weak transcription	Psoas Muscle	Psoas
45	chr15:43042000-43044800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:43042000-43045600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:43042400-43044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:43042600-43044400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr15:43042600-43045800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:43042800-43044400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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