Variant report

Variant	rs10771943
Chromosome Location	chr12:32528752-32528753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1045751	0.81[ASN][1000 genomes]
rs1058640	0.83[CEU][hapmap]
rs10771940	0.82[CEU][hapmap]
rs10771942	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10844193	0.83[CEU][hapmap]
rs10844197	0.83[ASN][1000 genomes]
rs10844198	0.83[ASN][1000 genomes]
rs1128591	0.81[ASN][1000 genomes]
rs167806	0.80[ASN][1000 genomes]
rs1809601	0.86[EUR][1000 genomes]
rs188978	0.81[ASN][1000 genomes]
rs188979	0.81[ASN][1000 genomes]
rs2062600	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253235	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2450506	0.83[ASN][1000 genomes]
rs2455004	0.83[ASN][1000 genomes]
rs2651365	0.81[ASN][1000 genomes]
rs2651366	0.83[ASN][1000 genomes]
rs2651367	0.83[ASN][1000 genomes]
rs2651368	0.83[ASN][1000 genomes]
rs2651377	0.83[ASN][1000 genomes]
rs2728675	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2728676	0.83[ASN][1000 genomes]
rs2728678	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2728679	0.83[ASN][1000 genomes]
rs2728689	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2728690	0.80[ASN][1000 genomes]
rs2733683	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2733694	0.83[ASN][1000 genomes]
rs2733696	0.83[ASN][1000 genomes]
rs2733703	0.83[ASN][1000 genomes]
rs2733704	0.83[ASN][1000 genomes]
rs2733705	0.83[ASN][1000 genomes]
rs2931554	0.83[ASN][1000 genomes]
rs325418	0.80[ASN][1000 genomes]
rs325419	0.81[ASN][1000 genomes]
rs325420	0.80[ASN][1000 genomes]
rs325421	0.80[ASN][1000 genomes]
rs325424	0.81[ASN][1000 genomes]
rs325425	0.94[JPT][hapmap]
rs325426	0.94[JPT][hapmap]
rs325429	0.82[CEU][hapmap]
rs4931622	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4931625	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56146365	0.94[ASN][1000 genomes]
rs61927173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488048	0.87[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6488049	0.83[AFR][1000 genomes]
rs7135763	0.90[EUR][1000 genomes]
rs7298381	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7312698	0.82[ASN][1000 genomes]
rs7314141	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs7958506	0.94[JPT][hapmap]
rs7963401	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964583	0.86[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7976195	0.87[CEU][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs901599	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.90[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	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
rs10771943	BICD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 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	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
3	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:32519000-32530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:32519000-32530000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:32519000-32530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:32519000-32530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:32519000-32530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:32519000-32530400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:32519200-32530200	Weak transcription	HSMM	muscle
13	chr12:32519200-32532000	Weak transcription	NHDF-Ad	bronchial
14	chr12:32520600-32529800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:32520800-32530600	Weak transcription	HSMMtube	muscle
16	chr12:32520800-32532400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:32522400-32530000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:32522400-32532200	Weak transcription	Osteobl	bone
19	chr12:32522600-32529000	Weak transcription	Ovary	ovary
20	chr12:32522600-32530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:32522600-32530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
23	chr12:32522800-32532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:32525800-32529400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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