Variant report

Variant	rs73191043
Chromosome Location	chr5:90478253-90478254
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	chr5:90477596..90479600-chr5:90677496..90679146,2	K562	blood:
2	chr5:90470652..90472646-chr5:90476346..90478520,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10050640	1.00[EUR][1000 genomes]
rs10056171	1.00[EUR][1000 genomes]
rs10074242	1.00[EUR][1000 genomes]
rs55961630	1.00[EUR][1000 genomes]
rs73773346	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90467600-90485600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:90468000-90478400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:90472400-90478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:90472800-90478400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:90473200-90478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:90473200-90479400	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:90473400-90478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90473400-90485600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:90473800-90479400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:90474000-90478600	Weak transcription	Osteobl	bone
11	chr5:90474400-90478400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:90475200-90478400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:90475400-90478400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:90475600-90478400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:90475600-90478400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:90475600-90478400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:90475600-90479000	Weak transcription	NHLF	lung
18	chr5:90477200-90478400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:90477400-90479800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:90477400-90480000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:90477600-90480400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:90478000-90480000	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:90478000-90480200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:90478200-90478400	Enhancers	Right Atrium	heart
25	chr5:90478200-90478600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:90478200-90478600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:90478200-90478800	Enhancers	NHDF-Ad	bronchial
28	chr5:90478200-90479000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr5:90478200-90479000	Enhancers	Duodenum Mucosa	Duodenum
30	chr5:90478200-90479000	Enhancers	HSMM	muscle
31	chr5:90478200-90479200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr5:90478200-90479800	Enhancers	Placenta	Placenta
33	chr5:90478200-90480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:90478200-90480000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:90478200-90480000	Enhancers	Fetal Muscle Leg	muscle
36	chr5:90478200-90480200	Enhancers	Rectal Mucosa Donor 31	rectum

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