Variant report

Variant	rs556775
Chromosome Location	chr6:149795692-149795693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149637666..149639444-chr6:149793847..149796038,2	K562	blood:
2	chr6:149795286..149796796-chr6:149799603..149801991,2	MCF-7	breast:
3	chr6:149795137..149796969-chr6:149800706..149802832,2	K562	blood:
4	chr6:149792520..149794344-chr6:149794518..149797030,2	K562	blood:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1001242	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1074495	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1339185	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1934117	0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2007062	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2153219	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2744430	0.83[ASN][1000 genomes]
rs2789493	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2789495	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789496	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2789498	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2789501	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765290	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs475681	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs512685	0.85[CEU][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs587155	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62441728	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs626755	0.85[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs632360	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs634440	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs656461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs664951	0.89[EUR][1000 genomes]
rs760897	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs805027	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs909793	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs9377218	0.86[CEU][hapmap];0.88[EUR][1000 genomes]

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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:149789400-149806000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:149789600-149798400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr6:149790000-149796000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:149790200-149802000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:149790400-149802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:149791000-149799000	Genic enhancers	Primary B cells from cord blood	blood
10	chr6:149792000-149796400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:149792000-149800200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:149792600-149803000	Weak transcription	Fetal Brain Female	brain
13	chr6:149792800-149796200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr6:149792800-149797000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:149793200-149801800	Weak transcription	Thymus	Thymus
16	chr6:149793400-149796600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr6:149794000-149796000	Enhancers	Fetal Thymus	thymus
18	chr6:149794200-149795800	Enhancers	Adipose Nuclei	Adipose
19	chr6:149794200-149795800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr6:149794200-149796000	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:149794200-149796000	Enhancers	Right Ventricle	heart
22	chr6:149794200-149796200	Weak transcription	Small Intestine	intestine
23	chr6:149794200-149796400	Enhancers	Spleen	Spleen
24	chr6:149794400-149798000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:149794400-149800000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:149794600-149796000	Enhancers	Stomach Mucosa	stomach
27	chr6:149794800-149796400	Enhancers	Fetal Intestine Large	intestine
28	chr6:149795000-149796000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:149795000-149796600	Enhancers	HepG2	liver
30	chr6:149795000-149799800	Weak transcription	Esophagus	oesophagus
31	chr6:149795000-149801800	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr6:149795000-149802000	Weak transcription	Placenta	Placenta
33	chr6:149795200-149795800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr6:149795200-149796400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:149795200-149796600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:149795200-149802800	Weak transcription	Right Atrium	heart
37	chr6:149795400-149795800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr6:149795400-149795800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:149795400-149796000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:149795400-149796000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:149795400-149796000	Enhancers	Hela-S3	cervix
42	chr6:149795400-149796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:149795400-149796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:149795400-149800600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:149795400-149801200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:149795600-149795800	Enhancers	Lung	lung
47	chr6:149795600-149796000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:149795600-149796000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr6:149795600-149796400	Enhancers	Colonic Mucosa	Colon
50	chr6:149795600-149796600	Enhancers	Rectal Mucosa Donor 29	rectum

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