Variant report

Variant	rs11680708
Chromosome Location	chr2:205437577-205437578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205425587..205428790-chr2:205435379..205438697,3	K562	blood:
2	chr2:205425587..205427655-chr2:205437197..205439824,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10084275	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10170405	0.82[EUR][1000 genomes]
rs10174747	0.85[EUR][1000 genomes]
rs10175139	0.87[EUR][1000 genomes]
rs10198136	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10490268	0.82[EUR][1000 genomes]
rs10932077	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10932079	0.83[EUR][1000 genomes]
rs10932080	0.81[EUR][1000 genomes]
rs11674084	0.82[EUR][1000 genomes]
rs11675555	0.82[EUR][1000 genomes]
rs12474673	0.81[ASN][1000 genomes]
rs12474806	0.84[EUR][1000 genomes]
rs12621786	0.83[EUR][1000 genomes]
rs12694004	0.82[EUR][1000 genomes]
rs12986544	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13017644	0.83[EUR][1000 genomes]
rs1447497	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs1861766	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1868068	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2111447	0.84[EUR][1000 genomes]
rs2193449	0.83[EUR][1000 genomes]
rs2193450	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2197691	0.90[CEU][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2216318	0.83[EUR][1000 genomes]
rs2216319	0.86[EUR][1000 genomes]
rs2334802	0.82[EUR][1000 genomes]
rs4673307	0.82[EUR][1000 genomes]
rs6713748	0.87[EUR][1000 genomes]
rs6731575	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7568847	0.82[EUR][1000 genomes]
rs7587284	0.82[EUR][1000 genomes]
rs7590330	0.82[EUR][1000 genomes]
rs7595939	0.83[EUR][1000 genomes]
rs7600675	0.82[EUR][1000 genomes]
rs7603507	0.83[EUR][1000 genomes]
rs7609521	0.82[EUR][1000 genomes]
rs763832	0.82[EUR][1000 genomes]
rs9283519	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
2	chr2:205425800-205454400	Weak transcription	HSMM	muscle
3	chr2:205429200-205437800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:205430000-205438400	Weak transcription	Aorta	Aorta
5	chr2:205431200-205438400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:205431600-205440600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:205435000-205441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:205435200-205438400	Weak transcription	Gastric	stomach
9	chr2:205435200-205438400	Weak transcription	Lung	lung
10	chr2:205435200-205438600	Enhancers	Liver	Liver
11	chr2:205435400-205438200	Weak transcription	Pancreas	Pancrea
12	chr2:205435400-205440200	Weak transcription	Psoas Muscle	Psoas
13	chr2:205436200-205437800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:205436200-205438200	Weak transcription	Ovary	ovary
15	chr2:205436200-205438800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205436400-205438000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:205436800-205438400	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:205437000-205438200	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:205437200-205437800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:205437200-205438200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:205437200-205438200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:205437200-205439600	Weak transcription	Fetal Intestine Small	intestine

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