Variant report

Variant	rs10845528
Chromosome Location	chr12:12472474-12472475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11054803	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134469	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137704	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303340	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7963823	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7964141	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7966994	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12462400-12472600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
4	chr12:12467600-12472600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:12468000-12472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:12469400-12472600	Weak transcription	Stomach Mucosa	stomach
7	chr12:12469400-12472600	Weak transcription	Hela-S3	cervix
8	chr12:12469400-12472600	Weak transcription	HepG2	liver
9	chr12:12470200-12472800	Weak transcription	Gastric	stomach
10	chr12:12470600-12480800	Weak transcription	K562	blood
11	chr12:12471400-12472600	Enhancers	Liver	Liver
12	chr12:12471800-12472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:12472000-12472600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:12472000-12473800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:12472200-12472600	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:12472200-12473000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:12472200-12474200	Enhancers	Fetal Intestine Large	intestine
18	chr12:12472200-12474200	Enhancers	Fetal Intestine Small	intestine
19	chr12:12472400-12472600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:12472400-12472600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:12472400-12472600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:12472400-12472600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:12472400-12472600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:12472400-12472600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:12472400-12472600	Enhancers	Colon Smooth Muscle	Colon
26	chr12:12472400-12472600	Enhancers	Placenta	Placenta
27	chr12:12472400-12472600	Enhancers	Ovary	ovary
28	chr12:12472400-12472600	Enhancers	Right Atrium	heart
29	chr12:12472400-12472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:12472400-12472800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:12472400-12472800	Enhancers	Fetal Lung	lung
32	chr12:12472400-12472800	Enhancers	Osteobl	bone
33	chr12:12472400-12473000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr12:12472400-12473200	Enhancers	Adipose Nuclei	Adipose
35	chr12:12472400-12473200	Enhancers	Fetal Brain Female	brain
36	chr12:12472400-12473200	Enhancers	Fetal Kidney	kidney
37	chr12:12472400-12473200	Enhancers	Fetal Muscle Leg	muscle
38	chr12:12472400-12473400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:12472400-12473600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:12472400-12473600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:12472400-12473600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:12472400-12473800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr12:12472400-12473800	Enhancers	Colonic Mucosa	Colon
44	chr12:12472400-12474000	Enhancers	Pancreas	Pancrea

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