Variant report

Variant	rs16830505
Chromosome Location	chr3:119515068-119515069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119510909..119513953-chr3:119514986..119517424,3	K562	blood:
2	chr3:119514298..119516694-chr3:119519777..119521864,2	K562	blood:
3	chr3:119513257..119518482-chr3:119518835..119521864,6	K562	blood:
4	chr3:119497497..119499606-chr3:119513242..119515425,2	K562	blood:
5	chr3:119512757..119515605-chr3:119516397..119518859,2	MCF-7	breast:
6	chr3:119215696..119217904-chr3:119512821..119515742,3	K562	blood:
7	chr3:119514787..119516289-chr3:119811879..119814364,2	MCF-7	breast:
8	chr3:119217125..119218663-chr3:119514473..119516155,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144852	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12721597	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2461818	0.93[CEU][hapmap]
rs4687884	0.85[MKK][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4687885	1.00[JPT][hapmap];0.95[MKK][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4687886	1.00[JPT][hapmap];0.85[MKK][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4687887	1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55907307	0.90[ASN][1000 genomes]
rs55987931	0.82[AFR][1000 genomes]
rs56155951	0.90[ASN][1000 genomes]
rs59162145	0.90[ASN][1000 genomes]
rs59953121	0.90[ASN][1000 genomes]
rs60822858	0.90[ASN][1000 genomes]
rs61211594	0.90[ASN][1000 genomes]
rs6438545	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6438549	0.93[CEU][hapmap]
rs6773295	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6775566	1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72552100	0.90[ASN][1000 genomes]
rs72554005	0.90[ASN][1000 genomes]
rs72554006	0.90[ASN][1000 genomes]
rs72554009	0.90[ASN][1000 genomes]
rs72554015	0.90[ASN][1000 genomes]
rs73854708	0.90[ASN][1000 genomes]
rs73854714	0.90[ASN][1000 genomes]
rs9828996	0.90[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119512000-119515800	Genic enhancers	Fetal Intestine Small	intestine
2	chr3:119513600-119515400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr3:119513600-119515800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:119513800-119515200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:119513800-119515200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:119513800-119515200	Flanking Active TSS	A549	lung
7	chr3:119513800-119515200	Flanking Active TSS	K562	blood
8	chr3:119513800-119516200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:119513800-119516200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:119513800-119516200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:119514000-119515800	Flanking Active TSS	HepG2	liver
12	chr3:119514200-119515800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:119514200-119516000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:119514400-119515200	Enhancers	Small Intestine	intestine
15	chr3:119514400-119515400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:119514400-119516200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:119514400-119526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:119514600-119516200	Enhancers	Stomach Mucosa	stomach
19	chr3:119514600-119516800	Enhancers	Fetal Intestine Large	intestine
20	chr3:119514800-119515200	Weak transcription	Colonic Mucosa	Colon
21	chr3:119514800-119515600	Enhancers	Hela-S3	cervix
22	chr3:119514800-119518200	Enhancers	Liver	Liver
23	chr3:119515000-119515200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:119515000-119515400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:119515000-119515400	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:119515000-119526000	Weak transcription	Rectal Mucosa Donor 29	rectum

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