Variant report

Variant	rs73487855
Chromosome Location	chr13:51167630-51167631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51166235..51168592-chr13:51178276..51180293,2	K562	blood:
2	chr13:51165408..51167932-chr13:51169513..51171803,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56071165	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57862685	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58716859	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59628841	1.00[AMR][1000 genomes]
rs59955074	1.00[AMR][1000 genomes]
rs61510431	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61619820	1.00[AMR][1000 genomes]
rs73485666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73485690	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487899	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490013	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73490042	1.00[AMR][1000 genomes]
rs73490056	1.00[AMR][1000 genomes]
rs73490060	1.00[AMR][1000 genomes]
rs73492016	1.00[AMR][1000 genomes]
rs73492050	1.00[AMR][1000 genomes]
rs73492077	1.00[AMR][1000 genomes]
rs73492079	1.00[AMR][1000 genomes]
rs73495648	1.00[AMR][1000 genomes]
rs74077867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078134	1.00[AMR][1000 genomes]
rs7995277	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7996975	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51151200-51169600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:51159400-51168000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:51159400-51168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:51159400-51170600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:51159600-51168400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:51160000-51168000	Weak transcription	Thymus	Thymus
7	chr13:51160200-51174000	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:51160800-51168000	Enhancers	Dnd41	blood
9	chr13:51161400-51168000	Weak transcription	Fetal Intestine Small	intestine
10	chr13:51162000-51168000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:51162000-51168800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:51162200-51168000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:51162200-51172600	Weak transcription	Spleen	Spleen
14	chr13:51162400-51168800	Weak transcription	Fetal Lung	lung
15	chr13:51162400-51170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:51162800-51168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:51163600-51168600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:51164000-51168000	Weak transcription	Fetal Intestine Large	intestine
19	chr13:51164000-51168000	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:51164400-51168800	Enhancers	Primary B cells from cord blood	blood
21	chr13:51164400-51168800	Weak transcription	Adipose Nuclei	Adipose
22	chr13:51164400-51168800	Weak transcription	Right Atrium	heart
23	chr13:51164800-51169400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:51165200-51168400	Weak transcription	Left Ventricle	heart
25	chr13:51165600-51169000	Weak transcription	Fetal Heart	heart
26	chr13:51166000-51168000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr13:51166400-51167800	Enhancers	HUVEC	blood vessel
28	chr13:51166600-51168000	Weak transcription	Fetal Thymus	thymus
29	chr13:51166600-51168000	Enhancers	GM12878-XiMat	blood
30	chr13:51166600-51168200	Enhancers	NHDF-Ad	bronchial
31	chr13:51166600-51168400	Enhancers	Primary T cells from cord blood	blood
32	chr13:51166600-51168800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:51166600-51169600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:51166600-51171200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells	blood
36	chr13:51166600-51171400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr13:51166800-51167800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr13:51166800-51168200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:51166800-51169200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:51166800-51169600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:51166800-51169600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr13:51166800-51169800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr13:51166800-51170200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr13:51167000-51168200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr13:51167000-51168400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:51167000-51169800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr13:51167400-51168200	Enhancers	HepG2	liver
48	chr13:51167400-51168400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:51167400-51168800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:51167400-51168800	Weak transcription	NH-A	brain

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