Variant report

Variant	rs2179175
Chromosome Location	chr6:106594719-106594720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106542849..106544432-chr6:106593680..106596197,2	K562	blood:
2	chr6:106593873..106598543-chr6:106600901..106604368,5	K562	blood:
3	chr6:106592853..106595279-chr6:106597975..106600808,3	MCF-7	breast:
4	chr6:106590295..106592947-chr6:106593391..106597445,3	K562	blood:
5	chr6:106587956..106591795-chr6:106592518..106598079,7	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1018552	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2065082	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4946728	0.81[EUR][1000 genomes]
rs6568432	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7759385	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9399974	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9399975	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
12	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2179175	RSPH6A	trans	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106590800-106594800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:106591000-106594800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:106591200-106594800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:106592800-106595200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:106593000-106596400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:106593200-106595600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:106593400-106595600	Enhancers	NHEK	skin
8	chr6:106593400-106595800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:106593600-106595400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:106593600-106595400	Enhancers	HMEC	breast
11	chr6:106593600-106595600	Enhancers	NH-A	brain
12	chr6:106593600-106595600	Enhancers	NHDF-Ad	bronchial
13	chr6:106593600-106595600	Enhancers	Osteobl	bone
14	chr6:106593600-106595800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:106593600-106597000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:106593800-106595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:106593800-106596800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:106593800-106596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:106593800-106596800	Weak transcription	Fetal Thymus	thymus
20	chr6:106593800-106597200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:106594000-106595200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:106594000-106597400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:106594200-106594800	Weak transcription	Brain Germinal Matrix	brain
24	chr6:106594200-106595000	Enhancers	HSMMtube	muscle
25	chr6:106594200-106597400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:106594400-106595000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:106594400-106595000	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:106594400-106595000	Enhancers	NHLF	lung
29	chr6:106594400-106595600	Enhancers	Hela-S3	cervix
30	chr6:106594400-106595600	Enhancers	K562	blood
31	chr6:106594400-106597000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:106594400-106597000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:106594600-106595200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:106594600-106595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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