Variant report

Variant	rs73715208
Chromosome Location	chr7:104708463-104708464
allele	A/G
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	chr7:104650794..104654055-chr7:104707795..104709851,3	K562	blood:
2	chr7:104705262..104710596-chr7:104710916..104715928,6	K562	blood:
3	chr7:104707718..104709440-chr7:104709810..104711789,2	MCF-7	breast:
4	chr7:104702912..104705436-chr7:104706409..104709574,3	K562	blood:
5	chr7:104707915..104710491-chr7:104712651..104715318,2	MCF-7	breast:
6	chr7:104706055..104708042-chr7:104708063..104710703,2	K562	blood:
7	chr7:104651595..104655365-chr7:104705718..104710034,4	MCF-7	breast:
8	chr7:104649023..104655837-chr7:104707951..104714558,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12112458	1.00[EUR][1000 genomes]
rs17145071	1.00[EUR][1000 genomes]
rs56377710	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60768252	1.00[EUR][1000 genomes]
rs73717958	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73718226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7805682	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	esv1801863	chr7:104699637-104713419	Genic enhancers Enhancers Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104677800-104758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104678000-104812200	Strong transcription	Dnd41	blood
3	chr7:104680600-104727000	Strong transcription	Fetal Thymus	thymus
4	chr7:104681200-104758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:104681400-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:104685600-104709000	Weak transcription	Lung	lung
8	chr7:104685600-104720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:104685600-104759000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr7:104687800-104721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:104694000-104711200	Strong transcription	Primary B cells from cord blood	blood
12	chr7:104695200-104708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:104697000-104726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:104697600-104726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:104699800-104738400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:104700800-104726800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:104701200-104711400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:104701200-104727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:104701400-104758800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:104701600-104708600	Weak transcription	Ovary	ovary
21	chr7:104701600-104726800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:104701600-104727000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:104701800-104710200	Strong transcription	NHDF-Ad	bronchial
24	chr7:104702000-104709800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:104702200-104710600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:104702200-104727000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:104702200-104738200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:104702200-104747800	Weak transcription	Stomach Mucosa	stomach
29	chr7:104702600-104709000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:104702600-104716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:104702800-104722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:104702800-104758800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:104703200-104710800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104703200-104710800	Strong transcription	Adipose Nuclei	Adipose
35	chr7:104703200-104725400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:104703200-104727000	Strong transcription	Liver	Liver
37	chr7:104703400-104727400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:104703600-104710600	Strong transcription	K562	blood
39	chr7:104703600-104725400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:104703600-104727000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:104703600-104759000	Strong transcription	Fetal Intestine Large	intestine
42	chr7:104703800-104710800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr7:104703800-104711200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:104703800-104725600	Strong transcription	Fetal Lung	lung
45	chr7:104703800-104726200	Strong transcription	Placenta	Placenta
46	chr7:104703800-104726600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:104703800-104735400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:104704000-104710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:104704000-104745200	Weak transcription	Psoas Muscle	Psoas
50	chr7:104704400-104710400	Strong transcription	Rectal Smooth Muscle	rectum

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