Variant report

Variant	rs11051966
Chromosome Location	chr12:32530580-32530581
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	chr12:32530472..32534353-chr12:32830607..32833580,3	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10771944	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10844187	0.89[CEU][hapmap]
rs10844189	0.89[CEU][hapmap]
rs10844194	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10844195	0.81[ASN][1000 genomes]
rs10844202	0.91[AMR][1000 genomes]
rs11051967	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051980	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051993	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11052006	0.88[AMR][1000 genomes]
rs12815894	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2087166	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35926650	0.90[ASN][1000 genomes]
rs3789976	0.89[CEU][hapmap]
rs61927171	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61927215	0.91[AMR][1000 genomes]
rs6488053	1.00[CEU][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7299524	0.91[AMR][1000 genomes]
rs7312869	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7971525	0.91[AMR][1000 genomes]
rs883404	0.91[AMR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv438201	chr12:32523455-32531212	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11051966	BICD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:32519200-32532000	Weak transcription	NHDF-Ad	bronchial
6	chr12:32520800-32530600	Weak transcription	HSMMtube	muscle
7	chr12:32520800-32532400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:32522400-32532200	Weak transcription	Osteobl	bone
9	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
10	chr12:32522800-32532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32529800-32530800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:32529800-32532000	Weak transcription	Ovary	ovary
13	chr12:32530000-32530600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:32530000-32530800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:32530000-32530800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:32530000-32530800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:32530000-32530800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:32530000-32530800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:32530000-32530800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:32530200-32530600	Enhancers	HSMM	muscle
21	chr12:32530200-32530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:32530400-32530600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:32530400-32530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:32530400-32530600	Enhancers	Thymus	Thymus
25	chr12:32530400-32530800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr12:32530400-32531000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:32530400-32531000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:32530400-32531000	Enhancers	K562	blood

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