Variant report

Variant	rs190511
Chromosome Location	chr12:32443791-32443792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1151037	0.83[ASN][1000 genomes]
rs1239385	0.84[EUR][1000 genomes]
rs1239386	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1239400	0.84[EUR][1000 genomes]
rs1239403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1239573	0.84[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs1239574	0.84[EUR][1000 genomes]
rs1239576	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1239577	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1239578	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1239579	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1239581	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1239582	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1239604	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs161977	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184469	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs2261339	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2261943	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442063	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593996	0.85[CHB][hapmap]
rs2608396	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2608397	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2728802	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs326640	0.88[CEU][hapmap]
rs326641	0.80[CEU][hapmap]

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	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs190511	BICD1	cis	Thyroid	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32426800-32446800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:32427000-32458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:32427000-32459400	Weak transcription	Aorta	Aorta
4	chr12:32427000-32463000	Weak transcription	NHLF	lung
5	chr12:32427200-32463000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:32427400-32445200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:32427600-32454400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:32435200-32448200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:32438200-32449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:32438800-32449600	Weak transcription	Fetal Brain Female	brain
11	chr12:32439800-32447000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:32440200-32458600	Weak transcription	Thymus	Thymus
13	chr12:32441000-32448800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:32442400-32451800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:32442800-32443800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr12:32442800-32443800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:32442800-32443800	Enhancers	HSMMtube	muscle
18	chr12:32442800-32443800	Enhancers	Osteobl	bone
19	chr12:32442800-32444000	Enhancers	A549	lung
20	chr12:32442800-32444000	Enhancers	K562	blood
21	chr12:32442800-32444200	Enhancers	Hela-S3	cervix
22	chr12:32443000-32443800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:32443000-32443800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:32443200-32443800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:32443200-32443800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32443200-32443800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:32443200-32443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:32443200-32443800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:32443200-32443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:32443200-32443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:32443200-32443800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:32443200-32443800	Enhancers	HSMM	muscle
33	chr12:32443200-32444000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:32443400-32443800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:32443400-32443800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:32443400-32443800	Enhancers	Ovary	ovary
37	chr12:32443400-32443800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:32443400-32443800	Enhancers	NHDF-Ad	bronchial
39	chr12:32443400-32461000	Weak transcription	Primary T cells from cord blood	blood
40	chr12:32443600-32443800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:32443600-32443800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:32443600-32443800	Enhancers	Brain Substantia Nigra	brain
43	chr12:32443600-32443800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:32443600-32443800	Enhancers	Right Atrium	heart
45	chr12:32443600-32448200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:32443600-32449400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:32443600-32454000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:32443600-32458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:32443600-32458600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:32443600-32458600	Weak transcription	Fetal Muscle Leg	muscle

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