Variant report

Variant	rs7980285
Chromosome Location	chr12:119049112-119049113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11834059	1.00[EUR][1000 genomes]
rs1851090	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55784945	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56201537	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385755	1.00[EUR][1000 genomes]
rs57335032	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57580214	1.00[EUR][1000 genomes]
rs58126539	1.00[EUR][1000 genomes]
rs58257597	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58940580	1.00[EUR][1000 genomes]
rs59299926	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59308806	1.00[EUR][1000 genomes]
rs60045043	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60987420	1.00[EUR][1000 genomes]
rs61131582	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134103	1.00[EUR][1000 genomes]
rs73409634	1.00[EUR][1000 genomes]
rs73411673	1.00[EUR][1000 genomes]
rs73411678	1.00[EUR][1000 genomes]
rs73411683	1.00[EUR][1000 genomes]
rs73411691	1.00[EUR][1000 genomes]
rs73411699	1.00[EUR][1000 genomes]
rs73411701	1.00[EUR][1000 genomes]
rs73413403	1.00[EUR][1000 genomes]
rs73413411	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413414	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413417	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73414937	1.00[EUR][1000 genomes]
rs7964796	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973549	1.00[EUR][1000 genomes]
rs7980252	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3505514	chr12:119045969-119050267	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3509709	chr12:119046419-119051617	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3509710	chr12:119046419-119051617	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3505515	chr12:119047048-119049139	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3505513	chr12:119047052-119049153	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3505516	chr12:119047083-119049115	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv2763005	chr12:119047482-119049604	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119044800-119049200	Weak transcription	Fetal Brain Male	brain
2	chr12:119047200-119049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119047400-119050200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:119047600-119050000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:119047600-119050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:119048000-119049200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:119048000-119049400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:119048000-119049800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:119048000-119049800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:119048000-119049800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:119048000-119050000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:119048200-119049400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:119048200-119050200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:119048400-119049200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:119048400-119050000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:119048400-119050200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:119048600-119050000	Enhancers	Aorta	Aorta
18	chr12:119048600-119050000	Enhancers	Stomach Smooth Muscle	stomach
19	chr12:119048600-119050200	Enhancers	Pancreas	Pancrea
20	chr12:119048800-119049200	Enhancers	Brain Germinal Matrix	brain
21	chr12:119048800-119049400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:119048800-119049800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:119049000-119049200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:119049000-119050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:119049000-119056400	Weak transcription	H9 Cell Line	embryonic stem cell

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