Variant report

Variant	rs10041206
Chromosome Location	chr5:112452227-112452228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10038215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074230	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076739	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078365	1.00[ASN][1000 genomes]
rs10477487	1.00[ASN][1000 genomes]
rs13356288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513913	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561975	1.00[ASN][1000 genomes]
rs28627135	1.00[ASN][1000 genomes]
rs56783601	1.00[ASN][1000 genomes]
rs58202991	1.00[ASN][1000 genomes]
rs62373347	1.00[ASN][1000 genomes]
rs62374677	1.00[ASN][1000 genomes]
rs62374680	1.00[ASN][1000 genomes]
rs62374681	1.00[ASN][1000 genomes]
rs62374706	1.00[ASN][1000 genomes]
rs6594676	1.00[ASN][1000 genomes]
rs6594678	1.00[ASN][1000 genomes]
rs6894919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701630	1.00[ASN][1000 genomes]
rs7708596	1.00[ASN][1000 genomes]
rs7718513	1.00[ASN][1000 genomes]
rs7728587	1.00[ASN][1000 genomes]
rs7731125	1.00[ASN][1000 genomes]
rs7734300	1.00[ASN][1000 genomes]
rs7734318	1.00[ASN][1000 genomes]
rs9326876	1.00[ASN][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:53 , 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	chr5:112449400-112452600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112449800-112454200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112450000-112454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:112450000-112459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:112450400-112453600	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:112450600-112452800	Weak transcription	Left Ventricle	heart
29	chr5:112450800-112452800	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:112450800-112454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:112450800-112454600	Weak transcription	Spleen	Spleen
32	chr5:112451000-112453400	Weak transcription	Primary T cells from cord blood	blood
33	chr5:112451000-112453600	Weak transcription	Adipose Nuclei	Adipose
34	chr5:112451000-112454200	Weak transcription	Fetal Brain Male	brain
35	chr5:112451000-112454600	Weak transcription	Lung	lung
36	chr5:112451000-112460600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
38	chr5:112451400-112453400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:112451400-112454800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:112451800-112452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:112451800-112454600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:112451800-112456200	Enhancers	Ovary	ovary
43	chr5:112452000-112452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:112452000-112452600	Weak transcription	Fetal Stomach	stomach
45	chr5:112452000-112452800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:112452000-112454000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr5:112452000-112454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:112452200-112452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112452200-112452800	Weak transcription	Liver	Liver
50	chr5:112452200-112453400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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