Variant report

Variant	rs12797305
Chromosome Location	chr11:119494843-119494844
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	chr11:119367442..119369349-chr11:119494053..119496718,2	K562	blood:
2	chr11:119352030..119353608-chr11:119494198..119496133,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10892420	0.84[EUR][1000 genomes]
rs10892421	0.80[ASN][1000 genomes]
rs12798473	0.97[EUR][1000 genomes]
rs1567377	0.87[EUR][1000 genomes]
rs1567378	0.85[EUR][1000 genomes]
rs2271249	0.83[EUR][1000 genomes]
rs2271250	0.83[EUR][1000 genomes]
rs3751020	0.84[EUR][1000 genomes]
rs4328225	0.84[EUR][1000 genomes]
rs4367956	0.92[EUR][1000 genomes]
rs4499013	0.84[ASN][1000 genomes]
rs4500497	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4514434	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4519102	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581455	0.86[EUR][1000 genomes]
rs4936488	0.83[EUR][1000 genomes]
rs4938691	0.82[EUR][1000 genomes]
rs4938692	0.98[EUR][1000 genomes]
rs4938693	0.98[EUR][1000 genomes]
rs4938694	0.98[EUR][1000 genomes]
rs4938695	0.98[EUR][1000 genomes]
rs6589766	0.90[EUR][1000 genomes]
rs7117705	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7130031	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7935369	0.88[EUR][1000 genomes]
rs7935488	0.88[EUR][1000 genomes]
rs7943818	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7949154	0.88[EUR][1000 genomes]
rs7951065	0.98[EUR][1000 genomes]
rs7951484	0.98[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	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898419	chr11:119488646-119518006	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119489600-119495200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:119489600-119496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:119489800-119496000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:119493200-119495200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr11:119493200-119495400	Enhancers	Brain Hippocampus Middle	brain
6	chr11:119493200-119495400	Enhancers	Brain Substantia Nigra	brain
7	chr11:119493400-119496400	Enhancers	Fetal Muscle Leg	muscle
8	chr11:119493400-119498600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:119493600-119495800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:119493800-119498000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:119493800-119501200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:119494200-119496600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:119494200-119498200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:119494200-119498400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:119494400-119495000	Enhancers	HepG2	liver
16	chr11:119494400-119495200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:119494400-119497800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:119494400-119498200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:119494400-119502800	Weak transcription	Spleen	Spleen
20	chr11:119494600-119495000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:119494600-119495000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:119494600-119495800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:119494600-119496200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:119494600-119498000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:119494800-119495000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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