Variant report

Variant	rs475681
Chromosome Location	chr6:149777406-149777407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149769726..149773853-chr6:149775332..149778151,3	K562	blood:

Variant related genes	Relation type
ENSG00000178199	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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1074495	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1339185	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1934117	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2007062	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2153219	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2744430	0.90[ASN][1000 genomes]
rs2789493	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2789495	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2789496	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2789498	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789501	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765290	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897125	0.82[ASN][1000 genomes]
rs512685	0.90[EUR][1000 genomes]
rs556775	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62441728	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs632360	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs634440	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs656461	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs664951	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs760897	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805027	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909793	0.92[EUR][1000 genomes]
rs9377218	0.92[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	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:149771600-149778000	Weak transcription	GM12878-XiMat	blood
8	chr6:149772000-149788800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:149772600-149779400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:149772600-149787000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:149773000-149778200	Weak transcription	Thymus	Thymus
12	chr6:149773000-149779600	Weak transcription	Primary T cells from cord blood	blood
13	chr6:149773000-149783400	Strong transcription	Primary B cells from cord blood	blood
14	chr6:149773600-149778400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:149775600-149779600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:149775800-149778000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:149775800-149780800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:149776000-149778200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:149776000-149780600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:149776200-149780600	Weak transcription	NH-A	brain
21	chr6:149776200-149785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:149776200-149789600	Weak transcription	Fetal Thymus	thymus
23	chr6:149776400-149777800	Weak transcription	Gastric	stomach
24	chr6:149776400-149778000	Weak transcription	Ovary	ovary
25	chr6:149776400-149778800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:149776400-149778800	Weak transcription	NHLF	lung
27	chr6:149776400-149779400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:149776400-149780600	Weak transcription	Osteobl	bone
29	chr6:149776400-149784400	Weak transcription	Small Intestine	intestine
30	chr6:149776400-149784800	Weak transcription	HepG2	liver
31	chr6:149776400-149785200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr6:149776400-149785400	Weak transcription	HSMMtube	muscle
33	chr6:149776600-149777800	Weak transcription	Lung	lung
34	chr6:149776600-149778200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:149776600-149778200	Weak transcription	Fetal Lung	lung
36	chr6:149776600-149779400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:149776600-149780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:149776600-149781600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:149776600-149785200	Weak transcription	Colonic Mucosa	Colon
40	chr6:149776800-149777600	Weak transcription	Fetal Intestine Small	intestine
41	chr6:149776800-149777600	Weak transcription	Spleen	Spleen
42	chr6:149776800-149777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:149776800-149778000	Weak transcription	Placenta	Placenta
44	chr6:149776800-149778200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:149776800-149778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:149776800-149778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:149776800-149778600	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:149776800-149778800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:149776800-149779600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:149776800-149780000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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