Variant report

Variant	rs2633603
Chromosome Location	chr3:112120103-112120104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1032239	0.91[ASN][1000 genomes]
rs13062867	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13078806	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13093653	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1488264	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2078116	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2399428	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2633600	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2633602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633605	0.97[ASN][1000 genomes]
rs2683900	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2683905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34257022	0.96[ASN][1000 genomes]
rs35938155	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682402	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57756138	0.97[ASN][1000 genomes]
rs7610866	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7644713	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9647327	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9878780	0.97[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	chr3:112111400-112120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:112111800-112125400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:112113400-112124600	Weak transcription	HMEC	breast
4	chr3:112113600-112120600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr3:112115000-112121200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:112115200-112127600	Weak transcription	Fetal Kidney	kidney
7	chr3:112116400-112126800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:112116600-112121200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:112117000-112124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:112117000-112125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:112117800-112120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:112118400-112123200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:112118600-112124000	Weak transcription	Placenta	Placenta
14	chr3:112118600-112130400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:112119200-112124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:112119600-112120200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr3:112119800-112120200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:112119800-112120200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr3:112119800-112120200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:112119800-112120800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:112120000-112120400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr3:112120000-112120800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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