Variant report

Variant	rs7978217
Chromosome Location	chr12:20630869-20630870
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10770678	1.00[JPT][hapmap]
rs10841550	0.85[EUR][1000 genomes]
rs10841551	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11045253	0.86[EUR][1000 genomes]
rs11045256	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11045257	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11045259	0.87[EUR][1000 genomes]
rs11045260	1.00[CHB][hapmap]
rs11045265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11045279	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs12184495	0.84[CEU][hapmap];0.95[EUR][1000 genomes]
rs12372360	0.85[EUR][1000 genomes]
rs12815826	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4130514	0.95[EUR][1000 genomes]
rs6487091	1.00[CHB][hapmap]
rs7302508	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7484431	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
3	chr12:20623200-20635200	Weak transcription	Fetal Intestine Large	intestine
4	chr12:20627800-20635600	Weak transcription	Hela-S3	cervix
5	chr12:20628600-20644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:20628800-20631400	Enhancers	NHDF-Ad	bronchial
7	chr12:20628800-20633000	Weak transcription	Left Ventricle	heart
8	chr12:20628800-20636800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:20629000-20635200	Weak transcription	Fetal Intestine Small	intestine
10	chr12:20629200-20640200	Weak transcription	NHLF	lung
11	chr12:20629600-20631200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:20629600-20631600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:20629800-20631600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:20630200-20633000	Weak transcription	Osteobl	bone
15	chr12:20630400-20631200	Enhancers	Brain Germinal Matrix	brain
16	chr12:20630600-20631000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:20630600-20631000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:20630600-20631000	Flanking Active TSS	Fetal Lung	lung
19	chr12:20630800-20631000	Flanking Active TSS	Aorta	Aorta
20	chr12:20630800-20631000	Active TSS	Fetal Brain Male	brain
21	chr12:20630800-20631000	Enhancers	Ovary	ovary
22	chr12:20630800-20631000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:20630800-20631600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:20630800-20639200	Weak transcription	Right Atrium	heart

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