Variant report

Variant	rs10845478
Chromosome Location	chr12:12243097-12243098
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	chr12:12242492..12245826-chr12:12250715..12252862,3	MCF-7	breast:
2	chr12:12237772..12239926-chr12:12242513..12244512,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10845472	0.83[MEX][hapmap]
rs10845474	0.83[MEX][hapmap]
rs10845479	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs10845480	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11054681	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs11054682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs11054683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs12823960	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35944418	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9300239	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][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	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	nsv975623	chr12:12238184-12243964	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv557583	chr12:12238317-12253591	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10845478	RIMKLB	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12226600-12245000	Weak transcription	Fetal Brain Male	brain
3	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
4	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
5	chr12:12235400-12243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:12235400-12244600	Weak transcription	Colonic Mucosa	Colon
7	chr12:12235400-12245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:12235400-12245200	Weak transcription	Pancreas	Pancrea
9	chr12:12235400-12260200	Weak transcription	Gastric	stomach
10	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:12238000-12245000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:12239600-12249200	Strong transcription	Fetal Intestine Small	intestine
15	chr12:12240400-12244200	Weak transcription	Fetal Lung	lung
16	chr12:12240400-12254200	Weak transcription	Stomach Mucosa	stomach
17	chr12:12240600-12245400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:12240600-12245400	Weak transcription	Brain Germinal Matrix	brain
19	chr12:12240600-12256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:12241000-12244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:12241000-12244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:12241000-12250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:12241200-12245000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:12241200-12245600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:12241200-12245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:12241200-12256800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:12241400-12252000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:12241800-12244200	Weak transcription	HepG2	liver
33	chr12:12241800-12245000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:12241800-12245400	Weak transcription	Fetal Stomach	stomach
35	chr12:12241800-12247400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:12242000-12243600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:12242000-12243800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:12242000-12243800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:12242000-12243800	Weak transcription	Osteobl	bone
41	chr12:12242000-12244000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:12242000-12244200	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:12242000-12245200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:12242000-12245800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:12242000-12251000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:12242000-12257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12242200-12243800	Weak transcription	NHLF	lung
48	chr12:12242800-12245200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr12:12242800-12249000	Strong transcription	Fetal Intestine Large	intestine

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