Variant report

Variant	rs2683909
Chromosome Location	chr3:112124514-112124515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11709101	0.80[EUR][1000 genomes]
rs11717777	0.80[EUR][1000 genomes]
rs2633544	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633551	0.93[ASN][1000 genomes]
rs2633599	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4473524	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56843573	0.89[ASN][1000 genomes]
rs58657519	0.89[ASN][1000 genomes]
rs59660163	0.91[ASN][1000 genomes]
rs62262366	0.80[EUR][1000 genomes]
rs62262408	0.80[EUR][1000 genomes]
rs999802	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:27 , 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	chr3:112115200-112127600	Weak transcription	Fetal Kidney	kidney
4	chr3:112116400-112126800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:112117000-112124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:112117000-112125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:112118600-112130400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:112120800-112126600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:112122000-112125800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:112122000-112126600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:112122400-112126000	Weak transcription	Fetal Intestine Large	intestine
12	chr3:112122400-112126200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:112122600-112124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:112122600-112125800	Weak transcription	Fetal Intestine Small	intestine
15	chr3:112122800-112125000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:112123200-112125200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:112123400-112125200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:112123600-112125600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:112123600-112126800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:112123800-112128800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:112124000-112126200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:112124200-112124600	Weak transcription	Placenta	Placenta
23	chr3:112124200-112124800	Enhancers	GM12878-XiMat	blood
24	chr3:112124400-112124600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:112124400-112125400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:112124400-112126200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:112124400-112127000	Enhancers	Rectal Mucosa Donor 31	rectum

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