Variant report

Variant	rs12633967
Chromosome Location	chr3:21713611-21713612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12638523	0.86[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs13081227	1.00[ASW][hapmap];0.81[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs1320290	0.82[AMR][1000 genomes]
rs17009199	0.85[CEU][hapmap];0.84[GIH][hapmap]
rs17009257	0.86[CEU][hapmap]
rs17009258	0.85[CEU][hapmap]
rs34563144	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34736466	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821396	1.00[ASW][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4380425	1.00[YRI][hapmap]
rs62237411	0.81[AMR][1000 genomes]
rs62237415	0.83[AMR][1000 genomes]
rs62237416	0.82[AMR][1000 genomes]
rs6762678	0.84[GIH][hapmap]
rs6763632	0.85[CEU][hapmap]
rs6764199	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6775498	0.80[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9310654	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9310655	0.81[CEU][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap]
rs9810547	0.85[CEU][hapmap]
rs9813051	0.85[ASN][1000 genomes]
rs9833071	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9833350	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9859099	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9860048	0.86[CEU][hapmap]
rs9862240	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9869922	0.85[ASN][1000 genomes]
rs9871400	0.86[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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12633967	ZNF385D	cis	cerebellum	SCAN
rs12633967	NKIRAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21705200-21713800	Weak transcription	Psoas Muscle	Psoas
2	chr3:21707400-21713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
4	chr3:21707800-21713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:21708000-21715600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:21709800-21713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:21709800-21714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:21710000-21713800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:21710000-21713800	Weak transcription	Aorta	Aorta
12	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
14	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:21712200-21715200	Enhancers	HUVEC	blood vessel
16	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:21712800-21715000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:21713200-21714000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:21713200-21714200	Enhancers	NHDF-Ad	bronchial
20	chr3:21713200-21714600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:21713200-21714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:21713200-21714600	Enhancers	HSMM	muscle
23	chr3:21713200-21715400	Enhancers	NH-A	brain
24	chr3:21713200-21715400	Enhancers	NHLF	lung
25	chr3:21713200-21715600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:21713400-21714400	Enhancers	Osteobl	bone
27	chr3:21713400-21714600	Enhancers	HMEC	breast
28	chr3:21713400-21715000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21713600-21714200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:21713600-21714400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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