Variant report

Variant	rs10845183
Chromosome Location	chr12:10764019-10764020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10763493-10764063	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:10763133-10764031	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:10763955-10764129	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:10759407-10766713	K562	blood:	n/a	n/a
5	POLR2A	chr12:10763606-10764193	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:10764014-10764147	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10753471..10755289-chr12:10762745..10764723,2	MCF-7	breast:
2	chr12:10761406..10764167-chr12:10764893..10767913,5	MCF-7	breast:
3	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
4	chr12:10754715..10757719-chr12:10762132..10766161,5	MCF-7	breast:
5	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
6	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
7	chr12:10528733..10530247-chr12:10762165..10764402,2	K562	blood:
8	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
9	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000060138	Chromatin interaction
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1026442	0.96[ASN][1000 genomes]
rs1054396	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772334	0.96[ASN][1000 genomes]
rs10845180	0.96[ASN][1000 genomes]
rs10845181	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11053877	0.91[ASN][1000 genomes]
rs11053880	0.96[ASN][1000 genomes]
rs12811247	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125091	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168749	0.81[AMR][1000 genomes]
rs2290718	0.96[ASN][1000 genomes]
rs2305853	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763565	0.96[ASN][1000 genomes]
rs7968819	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9988929	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv516351	chr12:10759489-10764045	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:10730600-10764800	Weak transcription	Lung	lung
3	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
5	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
6	chr12:10734400-10764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:10735200-10764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:10742600-10764600	Weak transcription	Small Intestine	intestine
9	chr12:10742800-10764800	Weak transcription	Psoas Muscle	Psoas
10	chr12:10743400-10765400	Weak transcription	Gastric	stomach
11	chr12:10744000-10765200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:10744000-10765400	Weak transcription	Aorta	Aorta
13	chr12:10744200-10764600	Weak transcription	HSMMtube	muscle
14	chr12:10744200-10765400	Weak transcription	Esophagus	oesophagus
15	chr12:10747000-10764800	Weak transcription	Right Ventricle	heart
16	chr12:10748400-10764600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:10749400-10764800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:10752200-10764800	Weak transcription	Colonic Mucosa	Colon
19	chr12:10752400-10764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:10753600-10765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:10754000-10764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:10755200-10764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:10755800-10764800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:10756400-10764800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:10756600-10764600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:10757200-10764200	Strong transcription	Fetal Thymus	thymus
27	chr12:10757800-10764600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:10758000-10764800	Weak transcription	Brain Substantia Nigra	brain
29	chr12:10758000-10765200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:10759600-10764200	Strong transcription	HUVEC	blood vessel
31	chr12:10759600-10764600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:10759600-10764600	Strong transcription	Fetal Intestine Large	intestine
33	chr12:10760200-10764600	Weak transcription	Brain Angular Gyrus	brain
34	chr12:10760200-10764600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:10760200-10764600	Weak transcription	Left Ventricle	heart
36	chr12:10760200-10764600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:10760200-10764800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:10760200-10764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:10760200-10764800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:10760400-10764600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:10760400-10764800	Weak transcription	Fetal Kidney	kidney
42	chr12:10760400-10764800	Weak transcription	NHLF	lung
43	chr12:10760800-10764800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:10761000-10764800	Weak transcription	Brain Anterior Caudate	brain
45	chr12:10761200-10764800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:10761400-10764800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:10761400-10765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:10761600-10764600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:10761600-10764600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:10761600-10765000	Weak transcription	Stomach Mucosa	stomach

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