Variant report

Variant	rs2633601
Chromosome Location	chr3:112120607-112120608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1386897	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872986	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1872987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996724	1.00[ASN][1000 genomes]
rs2029318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087259	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129856	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633567	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633576	0.80[EUR][1000 genomes]
rs2633591	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633606	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633607	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633608	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683890	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683896	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683897	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683898	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683901	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683902	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2683903	0.97[EUR][1000 genomes]
rs2683904	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2931761	1.00[ASN][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952469	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877341	chr3:112079277-112125521	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv997659	chr3:112099148-112135687	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3463780	chr3:112118262-112124060	Enhancers Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a
8	esv3463781	chr3:112118262-112124060	Weak transcription Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112111800-112125400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:112113400-112124600	Weak transcription	HMEC	breast
3	chr3:112115000-112121200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:112115200-112127600	Weak transcription	Fetal Kidney	kidney
5	chr3:112116400-112126800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:112116600-112121200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:112117000-112124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:112117000-112125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:112117800-112120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:112118400-112123200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:112118600-112124000	Weak transcription	Placenta	Placenta
12	chr3:112118600-112130400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:112119200-112124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:112119800-112120800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:112120000-112120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:112120200-112120800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:112120600-112120800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:112120600-112120800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:112120600-112120800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:112120600-112120800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:112120600-112121200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:112120600-112123000	Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links