Variant report

Variant	rs11680386
Chromosome Location	chr2:152748737-152748738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11676431	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11678607	0.96[EUR][1000 genomes]
rs11681677	0.96[EUR][1000 genomes]
rs11682945	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11685243	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686932	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11687218	0.96[EUR][1000 genomes]
rs11688428	0.96[EUR][1000 genomes]
rs11688476	0.96[EUR][1000 genomes]
rs11688687	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830427	0.96[EUR][1000 genomes]
rs16830540	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs35244681	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4664071	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4664507	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736804	0.96[EUR][1000 genomes]
rs62174451	0.96[EUR][1000 genomes]
rs62174452	0.96[EUR][1000 genomes]
rs62174453	0.92[EUR][1000 genomes]
rs62174454	0.96[EUR][1000 genomes]
rs62174456	0.96[EUR][1000 genomes]
rs62174457	0.96[EUR][1000 genomes]
rs62174459	0.96[EUR][1000 genomes]
rs62175660	0.96[EUR][1000 genomes]
rs62175661	0.96[EUR][1000 genomes]
rs62175662	0.96[EUR][1000 genomes]
rs62175663	0.96[EUR][1000 genomes]
rs62175664	0.96[EUR][1000 genomes]
rs62175665	0.96[EUR][1000 genomes]
rs62175666	0.96[EUR][1000 genomes]
rs62175667	0.96[EUR][1000 genomes]
rs62175668	0.96[EUR][1000 genomes]
rs62175712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175715	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175745	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175747	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175748	1.00[ASN][1000 genomes]
rs62175749	1.00[ASN][1000 genomes]
rs62175750	1.00[ASN][1000 genomes]
rs62175751	1.00[ASN][1000 genomes]
rs62175752	1.00[ASN][1000 genomes]
rs62175753	1.00[ASN][1000 genomes]
rs62175754	1.00[ASN][1000 genomes]
rs62175755	1.00[ASN][1000 genomes]
rs62175756	1.00[ASN][1000 genomes]
rs62175757	1.00[ASN][1000 genomes]
rs62175758	1.00[ASN][1000 genomes]
rs62175759	1.00[ASN][1000 genomes]
rs62176760	1.00[ASN][1000 genomes]
rs62176761	1.00[ASN][1000 genomes]
rs62176762	1.00[ASN][1000 genomes]
rs62176763	1.00[ASN][1000 genomes]
rs62176764	1.00[ASN][1000 genomes]
rs62176765	1.00[ASN][1000 genomes]
rs62176766	1.00[ASN][1000 genomes]
rs62176768	1.00[ASN][1000 genomes]
rs62176795	1.00[ASN][1000 genomes]
rs62176796	1.00[ASN][1000 genomes]
rs62176797	1.00[ASN][1000 genomes]
rs62176798	1.00[ASN][1000 genomes]
rs62176799	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62176800	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62176801	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62176802	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176803	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732157	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs756253	1.00[AFR][1000 genomes];0.96[EUR][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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152739600-152753000	Weak transcription	Lung	lung
2	chr2:152743800-152751600	Weak transcription	HepG2	liver
3	chr2:152747800-152749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:152748000-152748800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr2:152748000-152748800	Flanking Active TSS	HUVEC	blood vessel
6	chr2:152748000-152749000	Active TSS	Aorta	Aorta
7	chr2:152748200-152748800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:152748200-152748800	Enhancers	Primary T cells from cord blood	blood
9	chr2:152748200-152748800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:152748200-152748800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:152748200-152748800	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:152748200-152748800	Active TSS	Brain Substantia Nigra	brain
13	chr2:152748200-152748800	Active TSS	Colonic Mucosa	Colon
14	chr2:152748200-152748800	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:152748200-152748800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:152748200-152748800	Enhancers	Fetal Muscle Leg	muscle
17	chr2:152748200-152748800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:152748200-152748800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:152748200-152748800	Active TSS	A549	lung
20	chr2:152748200-152748800	Active TSS	Hela-S3	cervix
21	chr2:152748200-152749000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:152748200-152749400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:152748400-152748800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:152748400-152748800	Enhancers	Fetal Brain Male	brain
25	chr2:152748400-152748800	Flanking Active TSS	Fetal Brain Female	brain
26	chr2:152748600-152748800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:152748600-152748800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:152748600-152748800	Active TSS	Brain Angular Gyrus	brain
29	chr2:152748600-152748800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:152748600-152748800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr2:152748600-152748800	Flanking Active TSS	Fetal Kidney	kidney
32	chr2:152748600-152748800	Enhancers	Psoas Muscle	Psoas
33	chr2:152748600-152748800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:152748600-152748800	Enhancers	Right Atrium	heart
35	chr2:152748600-152748800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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