Variant report

Variant	rs9483503
Chromosome Location	chr6:133134182-133134183
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	POLR2A	chr6:133133973-133142719	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:133134002-133136170	HCT-116	colon:	n/a	n/a
3	POLR2A	chr6:133134162-133138350	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:133134172-133134832	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr6:133133509-133142958	HepG2	liver:	n/a	n/a
6	TAF1	chr6:133134148-133134636	PFSK-1	brain:	n/a	n/a
7	RFX5	chr6:133134054-133134850	K562	blood:	n/a	n/a
8	TBP	chr6:133133860-133135952	Hela-S3	cervix:	n/a	n/a
9	REST	chr6:133134150-133135002	HepG2	liver:	n/a	chr6:133134461-133134468
10	IRF1	chr6:133133534-133134875	K562	blood:	n/a	chr6:133134277-133134291 chr6:133134280-133134294 chr6:133134281-133134294 chr6:133134277-133134287 chr6:133134278-133134289 chr6:133134276-133134288 chr6:133134276-133134293 chr6:133134283-133134294 chr6:133134281-133134294 chr6:133134283-133134293 chr6:133134284-133134295 chr6:133134275-133134288 chr6:133134283-133134297 chr6:133134279-133134293 chr6:133134275-133134289 chr6:133134277-133134288 chr6:133134276-133134289 chr6:133134276-133134290 chr6:133134277-133134298 chr6:133134281-133134294 chr6:133134275-133134295 chr6:133134281-133134294 chr6:133134281-133134295 chr6:133134605-133134614
11	MYC	chr6:133133521-133138056	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
12	POLR2A	chr6:133134007-133138262	GM15510	blood:	n/a	n/a
13	POLR2A	chr6:133134105-133134931	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr6:133134121-133142902	PFSK-1	brain:	n/a	n/a
15	SMC3	chr6:133134024-133134517	GM12878	blood:	n/a	n/a
16	RCOR1	chr6:133133467-133134756	K562	blood:	n/a	n/a
17	MTA3	chr6:133133767-133137277	GM12878	blood:	n/a	n/a
18	RELA	chr6:133134071-133135940	GM19193	blood:	n/a	n/a
19	POLR2A	chr6:133134120-133142624	GM18505	blood:	n/a	n/a
20	CUX1	chr6:133133539-133134771	K562	blood:	n/a	chr6:133134547-133134556
21	TEAD4	chr6:133134159-133135002	K562	blood:	n/a	n/a
22	TBL1XR1	chr6:133134061-133136057	GM12878	blood:	n/a	n/a
23	RELA	chr6:133133625-133136264	GM10847	blood:	n/a	n/a
24	BHLHE40	chr6:133133833-133136004	GM12878	blood:	n/a	chr6:133134469-133134478 chr6:133134469-133134478
25	POLR2A	chr6:133133442-133144695	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:133133522-133142994	GM12891	blood:	n/a	n/a
27	POLR2A	chr6:133133947-133134688	U87	brain:	n/a	n/a
28	IRF4	chr6:133133951-133135053	GM12878	blood:	n/a	chr6:133134281-133134295 chr6:133134277-133134298
29	CHD2	chr6:133133992-133134920	GM12878	blood:	n/a	n/a
30	MXI1	chr6:133133461-133135102	IMR90	lung:	n/a	n/a
31	POLR2A	chr6:133133674-133134878	GM12878	blood:	n/a	n/a
32	RELA	chr6:133133917-133136548	GM12891	blood:	n/a	n/a
33	POLR2A	chr6:133133648-133142538	K562	blood:	n/a	n/a
34	MYC	chr6:133134159-133136405	NB4	blood:	n/a	chr6:133135767-133135777
35	IRF1	chr6:133133384-133137081	K562	blood:	n/a	chr6:133134277-133134291 chr6:133134280-133134294 chr6:133135591-133135605 chr6:133135587-133135601 chr6:133134911-133134922 chr6:133134281-133134294 chr6:133134277-133134287 chr6:133134278-133134289 chr6:133134276-133134288 chr6:133134276-133134293 chr6:133135464-133135478 chr6:133134283-133134294 chr6:133134281-133134294 chr6:133134283-133134293 chr6:133135589-133135602 chr6:133135583-133135603 chr6:133134284-133134295 chr6:133134275-133134288 chr6:133134283-133134297 chr6:133134279-133134293 chr6:133134275-133134289 chr6:133135591-133135601 chr6:133134277-133134288 chr6:133134276-133134289 chr6:133135589-133135602 chr6:133134276-133134290 chr6:133135589-133135603 chr6:133134277-133134298 chr6:133134281-133134294 chr6:133134275-133134295 chr6:133134281-133134294 chr6:133135588-133135602 chr6:133134281-133134295 chr6:133134605-133134614
36	STAT3	chr6:133134177-133134848	MCF10A-Er-Src	breast:	n/a	chr6:133134283-133134294 chr6:133134277-133134288 chr6:133134190-133134198 chr6:133134635-133134644 chr6:133134636-133134645
37	TAF1	chr6:133134133-133134593	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:133134140-133134988	GM12878	blood:	n/a	n/a
39	ZMIZ1	chr6:133133923-133136208	K562	blood:	n/a	n/a
40	MYC	chr6:133133438-133136503	K562	blood:	n/a	chr6:133134081-133134091 chr6:133135767-133135777
41	MTA3	chr6:133133889-133134925	GM12878	blood:	n/a	n/a
42	MYBL2	chr6:133133330-133136491	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:133133515-133136606	NB4	blood:	n/a	n/a
44	POLR2A	chr6:133133488-133142945	PBDE	blood:	n/a	n/a
45	CUX1	chr6:133134156-133134872	GM12878	blood:	n/a	chr6:133134547-133134556
46	RELA	chr6:133133993-133136545	GM19099	blood:	n/a	n/a
47	NFIC	chr6:133133987-133134948	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:133133896-133136612	Raji	blood:	n/a	n/a
49	POLR2A	chr6:133133410-133142612	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:133133546-133143142	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133133722..133135487-chr6:133500551..133504315,3	K562	blood:
2	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
3	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
4	chr6:132833194..132835178-chr6:133134140..133136704,2	MCF-7	breast:
5	chr6:132994919..132997703-chr6:133134162..133135954,3	MCF-7	breast:
6	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:

Variant related genes	Relation type
RPS12	TF binding region
SNORA33	TF binding region
SNORD100	TF binding region
SNORD101	TF binding region
ENSG00000146409	Chromatin interaction
ENSG00000028839	Chromatin interaction
ENSG00000079950	Chromatin interaction
ENSG00000218194	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6899535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6900010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6923611	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9321368	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493442	1.00[EUR][1000 genomes]
rs9493448	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	esv1806734	chr6:133125643-133168582	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133133400-133134200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:133133400-133134200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:133133400-133134200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:133133400-133134200	Flanking Active TSS	NHEK	skin
5	chr6:133133400-133134800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:133133400-133135800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:133133400-133136000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:133133400-133136000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:133133400-133136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:133133400-133136200	Active TSS	NHDF-Ad	bronchial
11	chr6:133133400-133136400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:133133600-133134200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:133133600-133134200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:133133600-133134200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr6:133133600-133134200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:133133600-133134200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:133133600-133134200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:133133600-133134200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr6:133133600-133134200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr6:133133600-133134200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr6:133133600-133134200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:133133600-133134200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:133133600-133134200	Flanking Active TSS	Dnd41	blood
24	chr6:133133600-133134200	Flanking Active TSS	HepG2	liver
25	chr6:133133600-133134200	Flanking Active TSS	HSMMtube	muscle
26	chr6:133133600-133134200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:133133600-133134400	Active TSS	Fetal Brain Female	brain
28	chr6:133133600-133134600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr6:133133600-133134800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr6:133133600-133134800	Flanking Active TSS	NH-A	brain
31	chr6:133133600-133134800	Flanking Active TSS	Osteobl	bone
32	chr6:133133600-133135000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:133133600-133135200	Active TSS	Right Atrium	heart
34	chr6:133133600-133135400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr6:133133600-133135400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:133133600-133135400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:133133600-133135400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:133133600-133136000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr6:133133600-133136000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr6:133133600-133136000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:133133600-133136000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:133133600-133136000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:133133600-133136000	Active TSS	Fetal Lung	lung
44	chr6:133133600-133136200	Active TSS	Brain Substantia Nigra	brain
45	chr6:133133600-133136400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr6:133133600-133136400	Active TSS	Brain Angular Gyrus	brain
47	chr6:133133600-133136400	Active TSS	Brain Anterior Caudate	brain
48	chr6:133133600-133136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:133133600-133136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:133133600-133136800	Active TSS	Brain Cingulate Gyrus	brain

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