Variant report

Variant	rs303031
Chromosome Location	chr6:25036980-25036981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25032692..25035035-chr6:25036206..25038734,3	K562	blood:
2	chr6:25028396..25029900-chr6:25034648..25037120,2	K562	blood:
3	chr6:24895729..24898166-chr6:25036279..25038018,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12214056	0.91[JPT][hapmap]
rs1555431	0.90[JPT][hapmap]
rs303034	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs6916014	0.86[JPT][hapmap]
rs9356960	0.86[JPT][hapmap]
rs9379708	0.82[ASN][1000 genomes]
rs9379712	0.86[JPT][hapmap]
rs9393611	0.86[JPT][hapmap]

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	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs303031	CMAH	cis	lymphoblastoid	seeQTL
rs303031	CMAH	cis	parietal	SCAN
rs303031	BTN3A1	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25028200-25037600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:25034600-25037200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:25034600-25038600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:25034800-25037200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:25035000-25037000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:25035000-25037400	Enhancers	K562	blood
7	chr6:25035200-25041200	Weak transcription	Fetal Kidney	kidney
8	chr6:25035200-25044600	Weak transcription	Right Atrium	heart
9	chr6:25035600-25037200	Enhancers	Placenta	Placenta
10	chr6:25035800-25037800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:25035800-25039400	Weak transcription	Liver	Liver
12	chr6:25035800-25040600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:25035800-25041000	Enhancers	Fetal Thymus	thymus
14	chr6:25036000-25038800	Weak transcription	Spleen	Spleen
15	chr6:25036000-25042400	Weak transcription	Lung	lung
16	chr6:25036400-25037000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:25036400-25037000	Enhancers	Primary B cells from cord blood	blood
18	chr6:25036400-25037600	Enhancers	Thymus	Thymus
19	chr6:25036400-25038000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:25036400-25038000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:25036400-25038600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:25036400-25039000	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:25036400-25040600	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:25036400-25041000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:25036400-25041000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:25036600-25037000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:25036600-25037200	Enhancers	GM12878-XiMat	blood
28	chr6:25036600-25037200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:25036600-25038000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr6:25036600-25038000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:25036600-25038800	Weak transcription	Primary T cells from cord blood	blood
32	chr6:25036600-25038800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:25036600-25039000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:25036600-25039400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:25036600-25040600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:25036600-25041200	Weak transcription	NH-A	brain
37	chr6:25036600-25041800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:25036800-25037000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr6:25036800-25037200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:25036800-25037200	Enhancers	Dnd41	blood
41	chr6:25036800-25037600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:25036800-25037600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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