Variant report

Variant	rs7704819
Chromosome Location	chr5:60399315-60399316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60234928..60236588-chr5:60398367..60400919,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4647084	1.00[AMR][1000 genomes]
rs4647165	1.00[AMR][1000 genomes]
rs61740847	1.00[AMR][1000 genomes]
rs7731304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60367400-60399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:60367800-60403800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:60368200-60402000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:60369000-60400200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:60378800-60403400	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:60379400-60403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:60388400-60401400	Weak transcription	Fetal Intestine Large	intestine
10	chr5:60393000-60404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:60394000-60399800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:60394200-60405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:60394400-60400400	Weak transcription	NHDF-Ad	bronchial
14	chr5:60394400-60404400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:60395000-60400000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:60395000-60400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:60395200-60402000	Weak transcription	Small Intestine	intestine
19	chr5:60395400-60404600	Weak transcription	Fetal Brain Male	brain
20	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
21	chr5:60395800-60399400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:60396200-60404600	Weak transcription	NH-A	brain
23	chr5:60396800-60399800	Weak transcription	Osteobl	bone
24	chr5:60396800-60400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:60396800-60402000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:60396800-60415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:60396800-60420400	Weak transcription	Ovary	ovary
28	chr5:60397400-60399800	Weak transcription	Fetal Lung	lung
29	chr5:60397800-60405000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:60398000-60405000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:60398000-60406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:60398200-60410600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:60398400-60416800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:60398400-60418800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:60398600-60399600	Weak transcription	Primary T cells from cord blood	blood
36	chr5:60398600-60401600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:60398800-60406200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:60399000-60401600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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