Variant report

Variant	rs1934593
Chromosome Location	chr6:106559602-106559603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106558728..106560776-chr6:106566123..106570070,3	K562	blood:
2	chr6:106557782..106560621-chr6:106566245..106567959,2	MCF-7	breast:
3	chr6:106543895..106546938-chr6:106557343..106560378,3	K562	blood:

Variant related genes	Relation type
ENSG00000057657	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12175062	1.00[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs1984224	0.95[JPT][hapmap]
rs4946722	0.91[CEU][hapmap]
rs4946724	0.90[CEU][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs4946725	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs535780	0.81[JPT][hapmap]
rs6924535	0.95[JPT][hapmap]
rs9373832	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1934593	PRDM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106546800-106560200	Weak transcription	HSMM	muscle
2	chr6:106546800-106567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:106547200-106562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:106547400-106560200	Weak transcription	NH-A	brain
5	chr6:106548400-106561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:106551600-106560400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:106551600-106563800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:106551800-106563000	Weak transcription	HSMMtube	muscle
9	chr6:106551800-106564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:106551800-106564000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:106553600-106584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:106554600-106566800	Weak transcription	Hela-S3	cervix
13	chr6:106554800-106564000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:106555200-106559800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:106555200-106560000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:106555200-106560200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:106555200-106560400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:106555200-106560400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:106555200-106561200	Weak transcription	Adipose Nuclei	Adipose
20	chr6:106555200-106562800	Weak transcription	Spleen	Spleen
21	chr6:106555200-106563800	Weak transcription	Esophagus	oesophagus
22	chr6:106555200-106564200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:106555200-106564400	Weak transcription	Ovary	ovary
24	chr6:106555400-106559800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:106555400-106559800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:106555400-106559800	Weak transcription	NHDF-Ad	bronchial
27	chr6:106555400-106560000	Weak transcription	Dnd41	blood
28	chr6:106555400-106560000	Weak transcription	GM12878-XiMat	blood
29	chr6:106555400-106561400	Weak transcription	Right Ventricle	heart
30	chr6:106555400-106561600	Weak transcription	NHLF	lung
31	chr6:106555400-106563000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:106555400-106563200	Weak transcription	HMEC	breast
33	chr6:106555400-106563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:106555400-106565000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:106555600-106561400	Weak transcription	NHEK	skin
36	chr6:106556000-106561200	Weak transcription	Colonic Mucosa	Colon
37	chr6:106556000-106564000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:106556200-106562400	Weak transcription	Placenta	Placenta
39	chr6:106556400-106559800	Weak transcription	Osteobl	bone
40	chr6:106556400-106560000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:106556400-106560000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:106556400-106563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:106556400-106563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:106556400-106567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:106556800-106562800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:106557200-106560000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:106557200-106561800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:106557200-106567200	Weak transcription	Fetal Intestine Large	intestine
49	chr6:106557600-106567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:106557800-106560000	Weak transcription	Rectal Mucosa Donor 29	rectum

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