Variant report

Variant	rs34847754
Chromosome Location	chr5:60397783-60397784
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60393939..60398083-chr5:60399417..60401955,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3369905	chr5:60397701-60397963	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 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	chr5:60367600-60398400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:60367800-60403800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:60368200-60402000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:60369000-60400200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:60371600-60398000	Weak transcription	HSMM	muscle
8	chr5:60378800-60403400	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:60379400-60403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:60388200-60399200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:60388400-60401400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:60390800-60398800	Weak transcription	Psoas Muscle	Psoas
14	chr5:60392800-60397800	Weak transcription	GM12878-XiMat	blood
15	chr5:60393000-60404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:60394000-60399800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:60394200-60405000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:60394400-60400400	Weak transcription	NHDF-Ad	bronchial
19	chr5:60394400-60404400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:60394400-60415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:60394600-60399200	Weak transcription	NHEK	skin
22	chr5:60395000-60400000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:60395000-60400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:60395200-60402000	Weak transcription	Small Intestine	intestine
25	chr5:60395400-60398600	Weak transcription	A549	lung
26	chr5:60395400-60404600	Weak transcription	Fetal Brain Male	brain
27	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
28	chr5:60395600-60398200	Strong transcription	Primary T cells from cord blood	blood
29	chr5:60395600-60398800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60395800-60399400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:60396200-60398000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:60396200-60399000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:60396200-60404600	Weak transcription	NH-A	brain
34	chr5:60396800-60399800	Weak transcription	Osteobl	bone
35	chr5:60396800-60400600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:60396800-60402000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:60396800-60415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:60396800-60420400	Weak transcription	Ovary	ovary
39	chr5:60397000-60398200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:60397200-60397800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:60397200-60399000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:60397400-60398000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:60397400-60398400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:60397400-60398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:60397400-60399800	Weak transcription	Fetal Lung	lung
46	chr5:60397600-60397800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr5:60397600-60398800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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