Variant report

Variant	rs7703001
Chromosome Location	chr5:112451337-112451338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11952087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35555142	0.83[EUR][1000 genomes]
rs4235792	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4259163	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4454046	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4458560	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4527591	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4582268	1.00[EUR][1000 genomes]
rs4705541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705781	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs62374708	1.00[EUR][1000 genomes]
rs62374709	1.00[EUR][1000 genomes]
rs62374711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594684	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594689	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6872711	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237129	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	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
4	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
5	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea
7	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:112437800-112454400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:112438000-112454200	Weak transcription	Psoas Muscle	Psoas
10	chr5:112438200-112452800	Weak transcription	Brain Anterior Caudate	brain
11	chr5:112439600-112454600	Weak transcription	Esophagus	oesophagus
12	chr5:112439800-112452600	Weak transcription	Fetal Lung	lung
13	chr5:112440200-112454200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:112442800-112452600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:112448600-112455000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:112448800-112454400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:112448800-112455200	Weak transcription	HUVEC	blood vessel
18	chr5:112449000-112452800	Weak transcription	Right Ventricle	heart
19	chr5:112449000-112452800	Weak transcription	HMEC	breast
20	chr5:112449000-112452800	Weak transcription	NHEK	skin
21	chr5:112449000-112453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:112449000-112453600	Weak transcription	Right Atrium	heart
23	chr5:112449200-112452200	Weak transcription	Fetal Heart	heart
24	chr5:112449400-112452600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:112449800-112451600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:112449800-112454200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:112450000-112451400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:112450000-112451800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:112450000-112452200	Strong transcription	Liver	Liver
30	chr5:112450000-112454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112450000-112459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:112450200-112452000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:112450200-112452200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:112450200-112452200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:112450400-112453600	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:112450600-112452800	Weak transcription	Left Ventricle	heart
37	chr5:112450800-112452000	Strong transcription	Fetal Stomach	stomach
38	chr5:112450800-112452800	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:112450800-112454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:112450800-112454600	Weak transcription	Spleen	Spleen
41	chr5:112451000-112451800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:112451000-112451800	Weak transcription	Ovary	ovary
43	chr5:112451000-112452000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:112451000-112452200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:112451000-112452200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:112451000-112453400	Weak transcription	Primary T cells from cord blood	blood
47	chr5:112451000-112453600	Weak transcription	Adipose Nuclei	Adipose
48	chr5:112451000-112454200	Weak transcription	Fetal Brain Male	brain
49	chr5:112451000-112454600	Weak transcription	Lung	lung
50	chr5:112451000-112460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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