Variant report

Variant	rs72738968
Chromosome Location	chr15:50741327-50741328
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	chr15:50646831..50648532-chr15:50740245..50742974,2	MCF-7	breast:
2	chr15:50733467..50735069-chr15:50739321..50742183,2	K562	blood:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10220843	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963735	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963739	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963744	0.95[EUR][1000 genomes]
rs17598020	0.95[EUR][1000 genomes]
rs41444349	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380013	1.00[ASN][1000 genomes]
rs59818085	1.00[ASN][1000 genomes]
rs72738959	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738960	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738970	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738977	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738980	0.95[EUR][1000 genomes]
rs72738983	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8032743	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034080	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041096	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
2	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
4	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
8	chr15:50723200-50743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:50724600-50755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
11	chr15:50728200-50750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:50730400-50744400	Strong transcription	Fetal Intestine Small	intestine
13	chr15:50730800-50754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:50731000-50748800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:50731200-50742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:50731200-50748400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:50731600-50748800	Strong transcription	Fetal Intestine Large	intestine
18	chr15:50732200-50749000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:50732800-50744600	Weak transcription	K562	blood
20	chr15:50733000-50747000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:50733400-50744400	Weak transcription	HSMMtube	muscle
22	chr15:50733400-50744800	Weak transcription	Fetal Kidney	kidney
23	chr15:50733400-50745000	Weak transcription	NHLF	lung
24	chr15:50733400-50747000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:50733400-50747000	Weak transcription	Fetal Lung	lung
26	chr15:50733400-50747000	Weak transcription	Small Intestine	intestine
27	chr15:50733400-50747400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:50733600-50742600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:50733600-50743400	Weak transcription	NHDF-Ad	bronchial
31	chr15:50733600-50758200	Weak transcription	HMEC	breast
32	chr15:50733600-50758800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr15:50733800-50743000	Weak transcription	A549	lung
34	chr15:50733800-50746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:50733800-50747000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:50733800-50752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:50733800-50755800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:50734000-50746400	Weak transcription	Brain Angular Gyrus	brain
39	chr15:50734000-50747000	Weak transcription	Fetal Brain Female	brain
40	chr15:50734000-50763200	Weak transcription	Brain Anterior Caudate	brain
41	chr15:50734000-50776400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
43	chr15:50734600-50752800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:50734600-50772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:50734800-50747200	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:50734800-50748000	Weak transcription	Colonic Mucosa	Colon
47	chr15:50735400-50743800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:50735400-50764600	Weak transcription	Psoas Muscle	Psoas
49	chr15:50735600-50746200	Weak transcription	Gastric	stomach
50	chr15:50735600-50746200	Weak transcription	Ovary	ovary

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