Variant report

Variant	rs11784193
Chromosome Location	chr8:105549409-105549410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105548452..105551549-chr8:105551987..105555312,4	K562	blood:
2	chr8:105541937..105546028-chr8:105546808..105551808,5	K562	blood:
3	chr8:105549086..105551378-chr8:105574063..105575720,2	K562	blood:
4	chr8:105547753..105551944-chr8:105551987..105556104,4	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10505062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808392	1.00[ASN][1000 genomes]
rs10955352	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs11775166	0.81[EUR][1000 genomes]
rs11775331	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776230	0.84[EUR][1000 genomes]
rs11777528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779233	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11781863	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11782169	0.83[EUR][1000 genomes]
rs11782457	0.81[AMR][1000 genomes]
rs11782889	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783063	0.86[EUR][1000 genomes]
rs11783104	0.84[EUR][1000 genomes]
rs11783651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785071	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11786825	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs11787202	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996303	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675273	0.86[EUR][1000 genomes]
rs12675605	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676758	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677793	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678962	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs12680652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681898	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682004	0.82[ASN][1000 genomes]
rs13249169	1.00[JPT][hapmap]
rs13250948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259268	0.84[EUR][1000 genomes]
rs13262954	0.86[EUR][1000 genomes]
rs13264598	0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap]
rs13265309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs13266739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13268122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs13270263	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16871500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1837203	0.86[EUR][1000 genomes]
rs2880074	0.86[EUR][1000 genomes]
rs3018438	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs33999897	0.86[EUR][1000 genomes]
rs34008887	0.81[EUR][1000 genomes]
rs34145689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155867	0.86[EUR][1000 genomes]
rs34255383	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34299626	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34306176	0.86[EUR][1000 genomes]
rs34435802	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34493777	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34556973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695252	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34873943	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34881302	0.86[EUR][1000 genomes]
rs34971735	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35013911	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35140929	0.86[EUR][1000 genomes]
rs35263244	0.84[EUR][1000 genomes]
rs35349928	0.82[ASN][1000 genomes]
rs35379160	0.81[EUR][1000 genomes]
rs35394104	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35467682	0.81[EUR][1000 genomes]
rs35517423	0.83[EUR][1000 genomes]
rs35635659	0.83[EUR][1000 genomes]
rs35649342	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767747	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795037	0.86[EUR][1000 genomes]
rs4263729	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4288345	0.86[EUR][1000 genomes]
rs4552868	0.86[EUR][1000 genomes]
rs4593510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734803	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs6468939	1.00[JPT][hapmap]
rs67089516	0.81[EUR][1000 genomes]
rs67555988	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984152	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6993149	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs6994764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6995010	0.83[EUR][1000 genomes]
rs7004507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009594	0.86[EUR][1000 genomes]
rs71520889	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520891	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520892	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520893	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520900	0.86[EUR][1000 genomes]
rs71520901	0.86[EUR][1000 genomes]
rs731126	0.81[EUR][1000 genomes]
rs7821181	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823671	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7824500	0.81[EUR][1000 genomes]
rs7834086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7845137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784193	LRP12	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:105533200-105551400	Weak transcription	HSMM	muscle
6	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:105542000-105549600	Weak transcription	Dnd41	blood
10	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
12	chr8:105544800-105550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:105545000-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:105545200-105554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:105545200-105565600	Weak transcription	Aorta	Aorta
16	chr8:105548800-105549600	Enhancers	Brain Germinal Matrix	brain
17	chr8:105548800-105549800	Enhancers	Psoas Muscle	Psoas
18	chr8:105548800-105549800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:105548800-105549800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:105549200-105549600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:105549200-105549600	Enhancers	Right Atrium	heart
22	chr8:105549400-105549600	Flanking Active TSS	Fetal Heart	heart
23	chr8:105549400-105549600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:105549400-105549800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:105549400-105549800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:105549400-105549800	Flanking Active TSS	K562	blood
27	chr8:105549400-105550400	Enhancers	Right Ventricle	heart
28	chr8:105549400-105550600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:105549400-105550600	Enhancers	GM12878-XiMat	blood
30	chr8:105549400-105550600	Enhancers	Osteobl	bone

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