Variant report

Variant	rs5745577
Chromosome Location	chr6:33547249-33547250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:33547242-33547452	K562	blood:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
2	POLR2A	chr6:33544423-33548349	GM12878	blood:	n/a	n/a
3	STAT5A	chr6:33547232-33547805	GM12878	blood:	n/a	chr6:33547406-33547413 chr6:33547708-33547720 chr6:33547736-33547748 chr6:33547353-33547365
4	RUNX3	chr6:33546961-33547250	GM12878	blood:	n/a	n/a
5	CTCF	chr6:33547240-33547390	HCPEpiC	choroid plexus:	n/a	n/a
6	EGR1	chr6:33547219-33547527	K562	blood:	n/a	n/a
7	PAX5	chr6:33546971-33547273	GM12878	blood:	n/a	n/a
8	MAFF	chr6:33547225-33547377	HepG2	liver:	n/a	chr6:33547329-33547347
9	POLR2A	chr6:33547134-33547449	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:33547224-33548301	GM19193	blood:	n/a	n/a
11	EGR1	chr6:33547150-33547533	K562	blood:	n/a	n/a
12	SMARCB1	chr6:33547236-33548244	Hela-S3	cervix:	n/a	n/a
13	REST	chr6:33547098-33547600	K562	blood:	n/a	chr6:33547316-33547329
14	NR2F2	chr6:33547114-33548401	K562	blood:	n/a	n/a
15	POLR2A	chr6:33547225-33548352	GM12878	blood:	n/a	n/a
16	MAFK	chr6:33547162-33547508	IMR90	lung:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
17	POLR2A	chr6:33547197-33548363	K562	blood:	n/a	n/a
18	YY1	chr6:33547069-33547336	GM12878	blood:	n/a	n/a
19	REST	chr6:33547247-33547521	K562	blood:	n/a	chr6:33547316-33547329
20	POLR2A	chr6:33547107-33547549	GM12878	blood:	n/a	n/a
21	RUNX3	chr6:33546889-33547469	GM12878	blood:	n/a	n/a
22	MAFK	chr6:33547197-33547482	HepG2	liver:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
23	MAFK	chr6:33547190-33547599	Hela-S3	cervix:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
24	ELF1	chr6:33547137-33548229	GM12878	blood:	n/a	chr6:33547405-33547418
25	STAT1	chr6:33547208-33548363	Hela-S3	cervix:	n/a	chr6:33547900-33547914 chr6:33547902-33547911 chr6:33547406-33547413 chr6:33547708-33547720 chr6:33547736-33547748 chr6:33547901-33547912 chr6:33547903-33547912 chr6:33547353-33547365
26	PAX5	chr6:33546943-33547365	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:33547172-33548303	K562	blood:	n/a	n/a
28	ELF1	chr6:33547242-33547532	K562	blood:	n/a	chr6:33547405-33547418
29	POLR2A	chr6:33547146-33547271	GM12878	blood:	n/a	n/a
30	MTA3	chr6:33547014-33547685	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33381203..33384118-chr6:33546265..33549089,2	K562	blood:
2	chr6:33391848..33395045-chr6:33544542..33547433,3	MCF-7	breast:
3	chr6:33545816..33547496-chr6:33675270..33677360,2	K562	blood:
4	chr6:33420831..33423204-chr6:33545367..33547352,2	MCF-7	breast:
5	chr6:33546298..33549471-chr6:33550091..33553469,5	K562	blood:
6	chr6:33541749..33544429-chr6:33546198..33547784,2	MCF-7	breast:
7	chr6:33420326..33423381-chr6:33545501..33547721,3	MCF-7	breast:
8	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:

Variant related genes	Relation type
GGNBP1	TF binding region
ENSG00000096433	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000213588	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10947428	1.00[JPT][hapmap]
rs396746	1.00[JPT][hapmap]
rs4713642	0.82[JPT][hapmap]
rs7769019	0.82[JPT][hapmap]
rs86715	0.82[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5745577	BAK1	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33544600-33547400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr6:33544600-33547600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:33544800-33548000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:33545400-33547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:33545600-33547600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr6:33545600-33548200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr6:33545800-33547600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr6:33545800-33547800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr6:33546000-33547400	Flanking Active TSS	Fetal Thymus	thymus
10	chr6:33546000-33547600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr6:33546000-33548000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr6:33546000-33548200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:33546000-33548400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr6:33546200-33547400	Flanking Active TSS	Right Ventricle	heart
17	chr6:33546200-33547600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr6:33546200-33547800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:33546200-33547800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:33546200-33548000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:33546200-33548000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr6:33546200-33548000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:33546200-33548000	Active TSS	Small Intestine	intestine
24	chr6:33546200-33548200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:33546200-33548200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:33546200-33548200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr6:33546200-33548200	Active TSS	Duodenum Mucosa	Duodenum
28	chr6:33546400-33547400	Flanking Active TSS	Dnd41	blood
29	chr6:33546400-33547600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:33546400-33547600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:33546400-33547600	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr6:33546400-33547600	Enhancers	Fetal Brain Male	brain
33	chr6:33546400-33547600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr6:33546400-33548000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:33546400-33548000	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr6:33546400-33548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:33546400-33548200	Active TSS	A549	lung
38	chr6:33546600-33547400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:33546600-33547400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:33546600-33547600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:33546600-33547600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:33546600-33548000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr6:33546600-33548200	Active TSS	GM12878-XiMat	blood
44	chr6:33546600-33548200	Active TSS	HSMM	muscle
45	chr6:33546800-33547400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:33546800-33547400	Flanking Active TSS	HUVEC	blood vessel
47	chr6:33546800-33547600	Flanking Active TSS	Fetal Stomach	stomach
48	chr6:33546800-33547800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr6:33546800-33548000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr6:33546800-33548000	Active TSS	NHEK	skin

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