Variant report

Variant	rs4597948
Chromosome Location	chr5:74345778-74345779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74230526..74231383-chr5:74345361..74346008,2	MCF-7	breast:
2	chr5:74345325..74346339-chr5:74561197..74562160,5	MCF-7	breast:
3	chr5:74345728..74346291-chr5:74523458..74524224,2	MCF-7	breast:
4	chr5:74220860..74221763-chr5:74345733..74346235,2	MCF-7	breast:
5	chr5:74343721..74346711-chr5:74348510..74350046,2	MCF-7	breast:
6	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
7	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:
8	chr5:74343645..74345260-chr5:74345382..74347449,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250889	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62369189	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
6	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
7	chr5:74339000-74347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:74340200-74346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:74340600-74347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:74341000-74346400	Weak transcription	Small Intestine	intestine
11	chr5:74341400-74347400	Enhancers	HMEC	breast
12	chr5:74342000-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:74342200-74345800	Weak transcription	Lung	lung
14	chr5:74342200-74347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:74342400-74345800	Weak transcription	Esophagus	oesophagus
16	chr5:74342400-74346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:74343400-74346200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:74343600-74345800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:74343600-74345800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:74343800-74346800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:74343800-74346800	Enhancers	Fetal Brain Female	brain
22	chr5:74344000-74345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:74344000-74346800	Enhancers	Stomach Mucosa	stomach
24	chr5:74344200-74347200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:74344400-74345800	Weak transcription	Gastric	stomach
26	chr5:74344400-74346200	Genic enhancers	Fetal Intestine Small	intestine
27	chr5:74344400-74346400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:74344400-74346800	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:74344400-74347200	Enhancers	Fetal Brain Male	brain
30	chr5:74344400-74348000	Weak transcription	Right Atrium	heart
31	chr5:74344600-74345800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:74344600-74345800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:74344600-74345800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:74344600-74346600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:74344600-74346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:74344600-74347000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:74344600-74347400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:74344800-74345800	Weak transcription	Adipose Nuclei	Adipose
39	chr5:74344800-74345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:74344800-74346200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:74344800-74346800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:74344800-74347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:74344800-74347400	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:74344800-74347800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr5:74344800-74347800	Weak transcription	Osteobl	bone
46	chr5:74344800-74348000	Weak transcription	HSMMtube	muscle
47	chr5:74344800-74348400	Enhancers	Spleen	Spleen
48	chr5:74345000-74346200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:74345000-74346800	Weak transcription	Aorta	Aorta
50	chr5:74345000-74347000	Weak transcription	Brain Anterior Caudate	brain

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