Variant report

Variant	rs9282611
Chromosome Location	chr6:33547429-33547430
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	STAT3	chr6:33547365-33547546	MCF10A-Er-Src	breast:	n/a	chr6:33547406-33547413
3	POLR2A	chr6:33544423-33548349	GM12878	blood:	n/a	n/a
4	STAT5A	chr6:33547232-33547805	GM12878	blood:	n/a	chr6:33547406-33547413 chr6:33547708-33547720 chr6:33547736-33547748 chr6:33547353-33547365
5	HMGN3	chr6:33547329-33548196	K562	blood:	n/a	n/a
6	EBF1	chr6:33547331-33547545	GM12878	blood:	n/a	n/a
7	CTCF	chr6:33547420-33547570	AG04449	skin:	n/a	n/a
8	PML	chr6:33547407-33548350	GM12878	blood:	n/a	n/a
9	RCOR1	chr6:33547428-33547666	K562	blood:	n/a	n/a
10	EGR1	chr6:33547219-33547527	K562	blood:	n/a	n/a
11	GABPA	chr6:33547261-33548463	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:33547344-33548351	Raji	blood:	n/a	n/a
13	POLR2A	chr6:33547134-33547449	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:33547224-33548301	GM19193	blood:	n/a	n/a
15	EGR1	chr6:33547150-33547533	K562	blood:	n/a	n/a
16	MYBL2	chr6:33547341-33548454	HepG2	liver:	n/a	n/a
17	CHD2	chr6:33547355-33547471	HepG2	liver:	n/a	n/a
18	SMARCB1	chr6:33547236-33548244	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr6:33547377-33548171	IMR90	lung:	n/a	n/a
20	REST	chr6:33547098-33547600	K562	blood:	n/a	chr6:33547316-33547329
21	MAFK	chr6:33547267-33547486	HepG2	liver:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
22	NR2F2	chr6:33547114-33548401	K562	blood:	n/a	n/a
23	MAX	chr6:33547402-33547456	Hela-S3	cervix:	n/a	n/a
24	CREB1	chr6:33547424-33548490	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:33547225-33548352	GM12878	blood:	n/a	n/a
26	RUNX3	chr6:33547297-33547611	GM12878	blood:	n/a	n/a
27	STAT3	chr6:33547360-33547555	MCF10A-Er-Src	breast:	n/a	chr6:33547406-33547413
28	MAFK	chr6:33547162-33547508	IMR90	lung:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
29	POLR2A	chr6:33547264-33548300	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:33547197-33548363	K562	blood:	n/a	n/a
31	REST	chr6:33547247-33547521	K562	blood:	n/a	chr6:33547316-33547329
32	POLR2A	chr6:33547107-33547549	GM12878	blood:	n/a	n/a
33	RUNX3	chr6:33546889-33547469	GM12878	blood:	n/a	n/a
34	MXI1	chr6:33547359-33548617	SK-N-SH	brain:	n/a	n/a
35	MAFK	chr6:33547197-33547482	HepG2	liver:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
36	MAFK	chr6:33547190-33547599	Hela-S3	cervix:	n/a	chr6:33547331-33547346 chr6:33547336-33547345
37	ELF1	chr6:33547137-33548229	GM12878	blood:	n/a	chr6:33547405-33547418
38	STAT3	chr6:33547362-33547562	MCF10A-Er-Src	breast:	n/a	chr6:33547406-33547413
39	RCOR1	chr6:33547329-33548251	K562	blood:	n/a	n/a
40	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
41	POLR2A	chr6:33547172-33548303	K562	blood:	n/a	n/a
42	ELF1	chr6:33547242-33547532	K562	blood:	n/a	chr6:33547405-33547418
43	UBTF	chr6:33547288-33547437	K562	blood:	n/a	n/a
44	POLR2A	chr6:33547272-33548364	GM12878	blood:	n/a	n/a
45	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	chr6:33546298..33549471-chr6:33550091..33553469,5	K562	blood:
5	chr6:33541749..33544429-chr6:33546198..33547784,2	MCF-7	breast:
6	chr6:33420326..33423381-chr6:33545501..33547721,3	MCF-7	breast:
7	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56740052	1.00[AMR][1000 genomes]
rs73743206	1.00[AMR][1000 genomes]
rs73743207	1.00[AMR][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33544600-33547600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr6:33544800-33548000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:33545400-33547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:33545600-33547600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr6:33545600-33548200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr6:33545800-33547600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:33545800-33547800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:33546000-33547600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr6:33546000-33548000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr6:33546000-33548200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:33546000-33548400	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr6:33546200-33547600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:33546200-33547800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr6:33546200-33547800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr6:33546200-33548000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:33546200-33548000	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr6:33546200-33548000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:33546200-33548000	Active TSS	Small Intestine	intestine
21	chr6:33546200-33548200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:33546200-33548200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:33546200-33548200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:33546200-33548200	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:33546400-33547600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:33546400-33547600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:33546400-33547600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr6:33546400-33547600	Enhancers	Fetal Brain Male	brain
29	chr6:33546400-33547600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr6:33546400-33548000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:33546400-33548000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:33546400-33548200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:33546400-33548200	Active TSS	A549	lung
34	chr6:33546600-33547600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:33546600-33547600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:33546600-33548000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr6:33546600-33548200	Active TSS	GM12878-XiMat	blood
38	chr6:33546600-33548200	Active TSS	HSMM	muscle
39	chr6:33546800-33547600	Flanking Active TSS	Fetal Stomach	stomach
40	chr6:33546800-33547800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr6:33546800-33548000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:33546800-33548000	Active TSS	NHEK	skin
43	chr6:33546800-33548200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:33546800-33548200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:33546800-33548200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:33546800-33548200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:33546800-33548200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:33546800-33548200	Active TSS	Primary T cells from cord blood	blood
49	chr6:33546800-33548200	Active TSS	Brain Anterior Caudate	brain
50	chr6:33546800-33548200	Active TSS	Duodenum Smooth Muscle	Duodenum

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