Variant report

Variant	rs12333172
Chromosome Location	chr6:45512215-45512216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45506661..45509386-chr6:45511675..45515150,3	K562	blood:
2	chr6:45510384..45512325-chr6:45518225..45520271,2	MCF-7	breast:
3	chr6:45507057..45510160-chr6:45510920..45514635,4	MCF-7	breast:
4	chr6:45512077..45515403-chr6:45517360..45519665,3	K562	blood:
5	chr6:45507659..45510027-chr6:45511136..45513669,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6911631	0.87[JPT][hapmap]
rs9463094	0.81[ASN][1000 genomes]
rs9463095	0.88[JPT][hapmap]
rs9472501	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1019561	chr6:45485826-45535222	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv538214	chr6:45485826-45535222	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv491939	chr6:45508319-45526327	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45481400-45514600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:45482800-45514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:45484400-45514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:45493200-45516200	Weak transcription	Hela-S3	cervix
7	chr6:45498600-45514600	Weak transcription	Dnd41	blood
8	chr6:45500200-45513800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:45500600-45514600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:45500600-45516600	Weak transcription	Small Intestine	intestine
11	chr6:45502000-45516200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:45503000-45514600	Weak transcription	Esophagus	oesophagus
13	chr6:45504200-45514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:45504600-45513200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:45506000-45514400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:45506000-45514600	Weak transcription	Pancreas	Pancrea
17	chr6:45506800-45514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:45506800-45514600	Weak transcription	Gastric	stomach
19	chr6:45506800-45523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:45507400-45518800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:45508200-45517200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:45508200-45521600	Weak transcription	Primary T cells from cord blood	blood
23	chr6:45508200-45530600	Weak transcription	Psoas Muscle	Psoas
24	chr6:45508600-45514600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:45508600-45514600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:45508600-45522400	Weak transcription	Fetal Thymus	thymus
27	chr6:45508800-45516600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:45508800-45523400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:45509200-45512600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr6:45509800-45512400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:45509800-45512800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:45509800-45514600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:45510000-45513800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr6:45510200-45514600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:45510800-45512400	Enhancers	HMEC	breast
36	chr6:45510800-45514200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:45511400-45512400	Weak transcription	Left Ventricle	heart
38	chr6:45511400-45514600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:45511400-45514600	Weak transcription	NH-A	brain
40	chr6:45511600-45514600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:45511600-45514600	Weak transcription	NHLF	lung
42	chr6:45512000-45512400	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr6:45512000-45513000	Strong transcription	HSMM	muscle
44	chr6:45512000-45514200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:45512000-45514200	Weak transcription	HSMMtube	muscle
46	chr6:45512000-45514400	Weak transcription	Osteobl	bone
47	chr6:45512000-45514800	Weak transcription	NHDF-Ad	bronchial
48	chr6:45512000-45516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:45512000-45524000	Weak transcription	NHEK	skin
50	chr6:45512200-45513000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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