Variant report

Variant	rs73407847
Chromosome Location	chr15:55487125-55487126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55486571..55488270-chr15:55698193..55700233,2	K562	blood:
3	chr15:55486571..55489386-chr15:55698193..55701285,4	K562	blood:
4	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
5	chr15:55463428..55465333-chr15:55485353..55487968,3	K562	blood:
6	chr15:54266407..54270072-chr15:55486535..55491034,4	MCF-7	breast:
7	chr15:55485173..55489207-chr15:55609824..55611374,3	K562	blood:

Variant related genes	Relation type
ENSG00000069943	Chromatin interaction
ENSG00000259669	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000225973	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12324612	1.00[EUR][1000 genomes]
rs28458789	1.00[EUR][1000 genomes]
rs28495958	1.00[EUR][1000 genomes]
rs60243408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169189	1.00[EUR][1000 genomes]
rs73407829	1.00[EUR][1000 genomes]
rs73407831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407835	1.00[EUR][1000 genomes]
rs73407844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409838	1.00[EUR][1000 genomes]
rs73419725	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	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:55462600-55488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55464800-55488200	Weak transcription	Lung	lung
4	chr15:55472200-55488000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:55472400-55488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:55472600-55488400	Weak transcription	Esophagus	oesophagus
7	chr15:55473000-55487400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:55473000-55487600	Weak transcription	Aorta	Aorta
9	chr15:55475000-55487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:55477200-55487200	Weak transcription	Fetal Kidney	kidney
11	chr15:55481800-55487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:55482200-55487600	Weak transcription	Brain Substantia Nigra	brain
13	chr15:55482200-55488000	Weak transcription	Left Ventricle	heart
14	chr15:55482400-55487800	Weak transcription	Fetal Intestine Small	intestine
15	chr15:55482400-55488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:55482600-55487200	Weak transcription	Fetal Stomach	stomach
17	chr15:55484400-55488000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:55484600-55487400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:55484600-55487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:55484600-55487600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:55484800-55487400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:55484800-55487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:55485000-55487200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:55485000-55487400	Weak transcription	NH-A	brain
25	chr15:55485000-55488200	Weak transcription	Placenta	Placenta
26	chr15:55485400-55487800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr15:55485400-55487800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr15:55485400-55488000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr15:55485600-55487200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:55485600-55487200	Enhancers	Liver	Liver
31	chr15:55485600-55487400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:55485600-55487400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:55485600-55487400	Enhancers	Brain Germinal Matrix	brain
34	chr15:55485600-55487400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr15:55485600-55487800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:55485600-55490600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:55485800-55487200	Enhancers	Duodenum Mucosa	Duodenum
38	chr15:55485800-55487800	Transcr. at gene 5' and 3'	K562	blood
39	chr15:55485800-55488000	Weak transcription	Fetal Thymus	thymus
40	chr15:55485800-55488200	Enhancers	Stomach Mucosa	stomach
41	chr15:55486000-55487200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr15:55486000-55487800	Genic enhancers	Primary B cells from cord blood	blood
43	chr15:55486000-55488400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:55486200-55487200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:55486200-55487400	Enhancers	Fetal Lung	lung
46	chr15:55486200-55487400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr15:55486200-55487400	Genic enhancers	HSMM	muscle
48	chr15:55486200-55487600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
49	chr15:55486200-55487600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr15:55486200-55487600	Enhancers	Brain Angular Gyrus	brain

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