Variant report

Variant	rs12305404
Chromosome Location	chr12:44777959-44777960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44771877..44773660-chr12:44776294..44779206,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11182464	0.82[LWK][hapmap];0.89[MKK][hapmap]
rs12297317	0.83[AMR][1000 genomes]
rs12304070	0.83[AMR][1000 genomes]
rs12304906	0.83[AMR][1000 genomes]
rs12305158	0.83[AMR][1000 genomes]
rs12306610	0.83[AMR][1000 genomes]
rs12307572	0.83[AMR][1000 genomes]
rs12308111	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309061	0.83[AMR][1000 genomes]
rs12309926	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313072	0.89[MKK][hapmap]
rs12322847	0.83[AMR][1000 genomes]
rs56706897	0.83[AMR][1000 genomes]
rs57966823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58618082	0.83[AMR][1000 genomes]
rs59069524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59369951	0.83[AMR][1000 genomes]
rs59536377	0.83[AMR][1000 genomes]
rs59593996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60870141	0.83[AMR][1000 genomes]
rs73276292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278392	0.83[AMR][1000 genomes]
rs73278393	0.83[AMR][1000 genomes]
rs73278394	0.83[AMR][1000 genomes]
rs73278400	0.83[AMR][1000 genomes]
rs7958305	0.83[AMR][1000 genomes]
rs7967992	0.83[AMR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
4	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:44772000-44782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44773800-44779800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:44774200-44778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:44774400-44778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:44774400-44778400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:44775200-44778000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:44775400-44779800	Weak transcription	Fetal Stomach	stomach
14	chr12:44775400-44783200	Weak transcription	Fetal Brain Female	brain
15	chr12:44775600-44783800	Weak transcription	Fetal Heart	heart
16	chr12:44777200-44778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:44777200-44779000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:44777400-44778400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:44777400-44778600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:44777400-44779000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:44777600-44778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:44777800-44778200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:44777800-44778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:44777800-44778400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:44777800-44778800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:44777800-44779400	Enhancers	Pancreatic Islets	Pancreatic Islet

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