Variant report

Variant	rs12081207
Chromosome Location	chr1:197746565-197746566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197715463..197718268-chr1:197744827..197746586,2	K562	blood:
2	chr1:197743225..197745756-chr1:197745981..197751358,8	MCF-7	breast:
3	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction
ENSG00000233040	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10754228	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10922260	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10922289	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10922291	0.97[ASN][1000 genomes]
rs12066841	0.86[ASN][1000 genomes]
rs12564235	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111930	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs4268380	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4274099	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4915561	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4915564	0.98[ASN][1000 genomes]
rs55995691	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6428416	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6667560	0.93[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6675292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691216	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs7516334	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7516481	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7533766	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12081207	DENND1B	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197744600-197751200	Weak transcription	Small Intestine	intestine
2	chr1:197744800-197746600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:197745200-197746800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:197745200-197747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:197745200-197748200	Enhancers	Primary B cells from cord blood	blood
6	chr1:197745200-197748400	Enhancers	Dnd41	blood
7	chr1:197745200-197748800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:197745200-197752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:197745200-197756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:197745400-197746600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:197745400-197746600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:197745400-197746600	Weak transcription	Left Ventricle	heart
13	chr1:197745400-197746800	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:197745400-197746800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:197745400-197747600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:197745400-197749000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:197745400-197751200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:197745400-197752000	Weak transcription	Esophagus	oesophagus
19	chr1:197745600-197747400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:197745600-197747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:197745600-197748200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:197745600-197748200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:197745600-197748200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:197745600-197748200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:197745600-197748600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:197745600-197751000	Weak transcription	NHLF	lung
27	chr1:197745800-197746600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:197745800-197747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:197745800-197751000	Weak transcription	Stomach Mucosa	stomach
30	chr1:197745800-197751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:197746000-197747200	Weak transcription	Thymus	Thymus
32	chr1:197746000-197747400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:197746000-197748200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:197746000-197748400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:197746000-197751000	Weak transcription	Fetal Intestine Large	intestine
36	chr1:197746000-197751200	Weak transcription	Fetal Intestine Small	intestine
37	chr1:197746000-197751200	Weak transcription	Hela-S3	cervix
38	chr1:197746200-197746600	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:197746200-197747200	Weak transcription	K562	blood
40	chr1:197746200-197747400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:197746200-197747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:197746200-197747600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:197746200-197747800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:197746200-197750600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:197746200-197750600	Weak transcription	NHEK	skin
46	chr1:197746200-197751000	Weak transcription	NHDF-Ad	bronchial
47	chr1:197746200-197751000	Weak transcription	Osteobl	bone
48	chr1:197746200-197751200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:197746200-197751200	Weak transcription	HMEC	breast
50	chr1:197746400-197747400	Weak transcription	Primary monocytes fromperipheralblood	blood

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