Variant report

Variant	rs288232
Chromosome Location	chr5:107419548-107419549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs149457	0.95[EUR][1000 genomes]
rs15158	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158172	0.93[ASN][1000 genomes]
rs158173	0.91[CEU][hapmap]
rs158175	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs158186	0.97[EUR][1000 genomes]
rs158283	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs158285	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158604	0.84[CEU][hapmap]
rs158605	0.84[CEU][hapmap]
rs158606	0.81[CEU][hapmap]
rs158609	0.83[CEU][hapmap]
rs188274	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs286741	0.91[CEU][hapmap]
rs286743	0.91[CEU][hapmap]
rs286744	0.91[CEU][hapmap]
rs286749	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs286750	0.91[CEU][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs286753	0.99[ASN][1000 genomes]
rs286771	0.83[CEU][hapmap]
rs286776	0.91[CEU][hapmap]
rs286777	0.90[CEU][hapmap]
rs286779	0.90[CEU][hapmap]
rs286781	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs286802	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs286809	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs286818	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs288131	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288139	0.99[ASN][1000 genomes]
rs288143	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288144	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288145	0.94[ASN][1000 genomes]
rs288146	0.94[ASN][1000 genomes]
rs288147	0.94[ASN][1000 genomes]
rs288149	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs288151	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288152	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288154	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288157	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288161	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs288164	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288168	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288169	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288170	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288171	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs288172	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs288173	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs288180	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs288228	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs288230	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs288233	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs288237	0.99[ASN][1000 genomes]
rs288238	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs289227	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs289228	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs289230	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs34383	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs34388	0.84[CEU][hapmap]
rs34415	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34422	0.83[CEU][hapmap]
rs34423	0.91[CEU][hapmap]
rs34424	0.90[CEU][hapmap]
rs34427	0.91[CEU][hapmap]
rs34428	0.91[CEU][hapmap]
rs34432	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs365981	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs370216	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372894	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40067	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs40070	0.91[CEU][hapmap]
rs40071	0.91[CEU][hapmap]
rs406139	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41129	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41131	0.91[CEU][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs457378	0.90[CEU][hapmap];0.82[EUR][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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107403800-107429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:107412200-107420600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:107414800-107427800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:107415000-107421000	Weak transcription	Pancreas	Pancrea
6	chr5:107415800-107419600	Weak transcription	Fetal Lung	lung
7	chr5:107415800-107419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:107416000-107443600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:107416200-107424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:107416400-107419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:107416800-107427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:107417200-107420200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:107417200-107420400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:107418000-107419800	Weak transcription	Fetal Kidney	kidney
15	chr5:107418000-107421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:107418600-107421200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:107418800-107420200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:107419000-107419600	Enhancers	Placenta	Placenta
19	chr5:107419000-107419600	Enhancers	Right Atrium	heart
20	chr5:107419000-107420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:107419000-107420200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:107419000-107420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:107419000-107420200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:107419000-107421000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:107419200-107421000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:107419200-107436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:107419400-107419600	Weak transcription	Gastric	stomach
28	chr5:107419400-107420000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr5:107419400-107420000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:107419400-107420000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:107419400-107420200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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