Variant report

Variant	rs73771803
Chromosome Location	chr5:95254150-95254151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95248637..95251285-chr5:95252378..95254672,2	K562	blood:
2	chr5:95249774..95251634-chr5:95252118..95254823,2	MCF-7	breast:
3	chr5:95247990..95250202-chr5:95251681..95254252,2	MCF-7	breast:
4	chr5:95252395..95254365-chr5:95256806..95259702,2	MCF-7	breast:
5	chr5:95246760..95250137-chr5:95252378..95255007,4	K562	blood:
6	chr5:95252836..95254992-chr5:95276353..95279101,2	K562	blood:

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction

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

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

rs_ID	r²[population]
rs28926199	1.00[AMR][1000 genomes]
rs4330485	1.00[AMR][1000 genomes]
rs55652330	1.00[AMR][1000 genomes]
rs55757346	1.00[AMR][1000 genomes]
rs57217517	1.00[AMR][1000 genomes]
rs57808386	1.00[AMR][1000 genomes]
rs58292647	1.00[AMR][1000 genomes]
rs59433710	1.00[AMR][1000 genomes]
rs60897703	1.00[AMR][1000 genomes]
rs61572029	1.00[AMR][1000 genomes]
rs6870381	1.00[AMR][1000 genomes]
rs73136516	1.00[AMR][1000 genomes]
rs73771806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771809	1.00[AMR][1000 genomes]
rs73771826	1.00[AMR][1000 genomes]
rs73771828	1.00[AMR][1000 genomes]
rs73771831	1.00[AMR][1000 genomes]
rs73771837	1.00[AMR][1000 genomes]
rs73771838	1.00[AMR][1000 genomes]
rs73771843	1.00[AMR][1000 genomes]
rs73773854	1.00[AMR][1000 genomes]
rs73773855	1.00[AMR][1000 genomes]
rs73780154	1.00[AMR][1000 genomes]
rs7705187	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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
3	chr5:95232400-95255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:95236200-95254200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:95236800-95260000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:95238200-95260400	Weak transcription	A549	lung
8	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
9	chr5:95242600-95259000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:95242600-95259800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:95243000-95255600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:95243000-95256800	Enhancers	Brain Substantia Nigra	brain
13	chr5:95243400-95278800	Weak transcription	Lung	lung
14	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:95244400-95258600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:95244800-95260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:95245000-95254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:95245000-95256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:95245200-95259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:95245800-95255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:95245800-95256200	Strong transcription	NHEK	skin
22	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
23	chr5:95249800-95271600	Weak transcription	NH-A	brain
24	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:95251200-95254600	Genic enhancers	Muscle Satellite Cultured Cells	--
26	chr5:95251200-95254800	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:95251200-95259000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:95251200-95260200	Genic enhancers	Liver	Liver
29	chr5:95251200-95261800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:95251400-95260200	Genic enhancers	HepG2	liver
31	chr5:95251600-95254400	Genic enhancers	HSMM	muscle
32	chr5:95251600-95254800	Enhancers	Brain Angular Gyrus	brain
33	chr5:95251600-95259000	Weak transcription	Stomach Mucosa	stomach
34	chr5:95251800-95254200	Enhancers	K562	blood
35	chr5:95251800-95257200	Strong transcription	Hela-S3	cervix
36	chr5:95251800-95259000	Weak transcription	Right Ventricle	heart
37	chr5:95252000-95258600	Weak transcription	NHLF	lung
38	chr5:95252200-95254600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:95252200-95255400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:95252200-95256200	Weak transcription	Esophagus	oesophagus
41	chr5:95252200-95256600	Weak transcription	Spleen	Spleen
42	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:95252400-95254200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:95252400-95254200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:95252400-95254600	Enhancers	Dnd41	blood
47	chr5:95252400-95256200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:95252400-95256200	Weak transcription	Aorta	Aorta
49	chr5:95252400-95256200	Weak transcription	Gastric	stomach
50	chr5:95252400-95256200	Weak transcription	Left Ventricle	heart

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