Variant report

Variant	rs60877517
Chromosome Location	chr5:79539289-79539290
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr5:79538768-79539386	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79537916..79541121-chr5:79549096..79552793,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239159	TF binding region
ENSG00000164300	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61153474	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79534800-79542000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:79535000-79542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:79535200-79542200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:79535800-79540600	Weak transcription	Pancreas	Pancrea
5	chr5:79535800-79541000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:79535800-79543200	Weak transcription	Gastric	stomach
7	chr5:79535800-79543400	Weak transcription	Small Intestine	intestine
8	chr5:79536000-79540800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:79536000-79541800	Weak transcription	Colonic Mucosa	Colon
10	chr5:79536000-79541800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:79536000-79543200	Weak transcription	Psoas Muscle	Psoas
12	chr5:79536200-79540800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:79536200-79540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:79536200-79540800	Weak transcription	Fetal Kidney	kidney
15	chr5:79536200-79540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:79536200-79542800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:79536400-79540000	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr5:79536400-79541200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:79536400-79541600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:79536600-79540000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:79536600-79540600	Weak transcription	Ovary	ovary
22	chr5:79536600-79541400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:79536600-79541800	Weak transcription	NHDF-Ad	bronchial
24	chr5:79536600-79541800	Weak transcription	NHLF	lung
25	chr5:79536600-79542200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:79536800-79540800	Weak transcription	Left Ventricle	heart
27	chr5:79536800-79541000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:79536800-79541200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:79537000-79539600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr5:79537200-79539400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:79537200-79540800	ZNF genes & repeats	Fetal Thymus	thymus
32	chr5:79537400-79539400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr5:79537400-79539400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:79537400-79539400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:79537400-79539400	Strong transcription	Osteobl	bone
36	chr5:79537400-79539600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr5:79537400-79540000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr5:79537400-79540000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:79537400-79541000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr5:79537600-79539400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr5:79537600-79539400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr5:79537600-79539400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr5:79537600-79539600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:79537600-79540000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr5:79537800-79539400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr5:79537800-79539400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr5:79537800-79539400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr5:79537800-79540000	ZNF genes & repeats	Dnd41	blood
49	chr5:79537800-79540800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:79538000-79539400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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