Variant report

Variant	rs17061596
Chromosome Location	chr6:132991102-132991103
allele	C/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	RAD21	chr6:132990659-132991441	HCT-116	colon:	n/a	n/a
2	RAD21	chr6:132990720-132991226	A549	lung:	n/a	n/a
3	CTCF	chr6:132991100-132991250	HMF	breast:	n/a	n/a
4	RAD21	chr6:132990711-132991273	HepG2	liver:	n/a	n/a
5	CTCF	chr6:132990750-132991175	K562	blood:	n/a	chr6:132990944-132990965
6	CTCF	chr6:132990960-132991110	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:132991091-132991135	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr6:132990832-132991162	H1-hESC	embryonic stem cell:	n/a	chr6:132990944-132990965
9	CTCF	chr6:132990636-132991218	HepG2	liver:	n/a	chr6:132990944-132990965
10	CTCF	chr6:132991020-132991170	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:132990441-132991450	SK-N-SH	brain:	n/a	chr6:132990944-132990965
12	ZNF263	chr6:132990748-132991542	HEK293-T-REx	kidney:	n/a	n/a
13	RAD21	chr6:132990799-132991180	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr6:132990791-132991128	SK-N-SH_RA	brain:	n/a	n/a
15	CHD2	chr6:132991038-132991238	GM12878	blood:	n/a	n/a
16	CTCF	chr6:132991100-132991250	HFF-Myc	foreskin:	n/a	n/a
17	RCOR1	chr6:132990648-132991293	Hela-S3	cervix:	n/a	n/a
18	ARID3A	chr6:132990696-132991109	HepG2	liver:	n/a	n/a
19	CTCF	chr6:132990773-132991118	A549	lung:	n/a	chr6:132990944-132990965
20	CTCF	chr6:132990603-132991407	A549	lung:	n/a	chr6:132990944-132990965
21	CTCF	chr6:132990774-132991141	K562	blood:	n/a	chr6:132990944-132990965
22	CTCF	chr6:132990684-132991248	MCF-7	breast:	n/a	chr6:132990944-132990965
23	RAD21	chr6:132990698-132991276	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr6:132990728-132991167	IMR90	lung:	n/a	chr6:132990944-132990965
25	RAD21	chr6:132990842-132991226	GM12878	blood:	n/a	n/a
26	CTCF	chr6:132990980-132991130	GM12864	blood:	n/a	n/a
27	SMC3	chr6:132990726-132991223	GM12878	blood:	n/a	chr6:132990788-132990795
28	CTCF	chr6:132990806-132991125	HepG2	liver:	n/a	chr6:132990944-132990965
29	TBL1XR1	chr6:132990785-132991151	GM12878	blood:	n/a	n/a
30	CTCF	chr6:132990655-132991257	HCT-116	colon:	n/a	chr6:132990944-132990965
31	CTCF	chr6:132990960-132991110	NB4	blood:	n/a	n/a
32	RAD21	chr6:132990646-132991292	HCT-116	colon:	n/a	n/a
33	CTCF	chr6:132991100-132991250	GM12874	blood:	n/a	n/a
34	CTCF	chr6:132990960-132991110	GM12875	blood:	n/a	n/a
35	RAD21	chr6:132990811-132991157	HepG2	liver:	n/a	n/a
36	CTCF	chr6:132991100-132991250	HVMF	connective:	n/a	n/a
37	RAD21	chr6:132990539-132991325	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr6:132990753-132991144	A549	lung:	n/a	n/a
39	RAD21	chr6:132990779-132991182	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr6:132990767-132991234	MCF-7	breast:	n/a	n/a
41	STAT3	chr6:132990968-132991137	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr6:132990882-132991180	SK-N-SH_RA	brain:	n/a	n/a
43	RAD21	chr6:132990773-132991245	GM12878	blood:	n/a	n/a
44	CTCF	chr6:132990834-132991113	ECC-1	luminal epithelium:	n/a	chr6:132990944-132990965
45	CTCF	chr6:132990888-132991109	SK-N-SH_RA	brain:	n/a	chr6:132990944-132990965
46	CTCF	chr6:132990960-132991110	GM12801	blood:	n/a	n/a
47	RAD21	chr6:132990742-132991203	MCF-7	breast:	n/a	n/a
48	RAD21	chr6:132990783-132991161	HepG2	liver:	n/a	n/a
49	CTCF	chr6:132990960-132991110	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr6:132990821-132991106	GM12878	blood:	n/a	chr6:132990944-132990965

No.	Distal block	Cell Line	Cell type
1	chr6:132990914..132991595-chr6:133089246..133089969,3	K562	blood:
2	chr6:132990212..132992203-chr6:132994281..132996296,2	K562	blood:
3	chr6:132989701..132992045-chr6:133118671..133121663,2	MCF-7	breast:
4	chr6:132990291..132991921-chr6:133135408..133137272,2	MCF-7	breast:
5	chr6:132990619..132991436-chr6:133145491..133146129,2	MCF-7	breast:
6	chr6:132990549..132991482-chr6:133101668..133102279,2	MCF-7	breast:
7	chr6:132990501..132991510-chr6:133088813..133090039,15	MCF-7	breast:
8	chr6:132990956..132993235-chr6:133139715..133142471,3	K562	blood:
9	chr6:132851570..132852206-chr6:132990660..132991417,2	MCF-7	breast:
10	chr6:132989431..132992652-chr6:132993184..132996193,3	MCF-7	breast:
11	chr6:132990494..132991335-chr6:133036345..133037111,3	MCF-7	breast:
12	chr6:132990569..132991974-chr6:133088542..133089952,6	MCF-7	breast:

Variant related genes	Relation type
HLFP1	TF binding region
ENSG00000112306	Chromatin interaction
ENSG00000218194	Chromatin interaction
ENSG00000146409	Chromatin interaction
ENSG00000206754	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17061589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17061591	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17061593	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17061599	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17061609	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17061614	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132990800-132991200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr6:132990800-132991200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:132991000-132991200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:132991000-132991200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:132991000-132991200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:132991000-132991200	Enhancers	Brain Angular Gyrus	brain
7	chr6:132991000-132991200	Enhancers	Brain Anterior Caudate	brain
8	chr6:132991000-132991200	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:132991000-132991200	Enhancers	Brain Substantia Nigra	brain
10	chr6:132991000-132991200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:132991000-132991200	Flanking Active TSS	Stomach Mucosa	stomach
12	chr6:132991000-132991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:132991000-132991400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:132991000-132991400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:132991000-132991400	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:132991000-132991400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:132991000-132991400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:132991000-132991400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:132991000-132991400	Enhancers	Adipose Nuclei	Adipose
20	chr6:132991000-132991400	Enhancers	Brain Hippocampus Middle	brain
21	chr6:132991000-132991400	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:132991000-132991400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:132991000-132991400	Enhancers	Fetal Brain Male	brain
24	chr6:132991000-132991400	Enhancers	Small Intestine	intestine
25	chr6:132991000-132991400	Enhancers	Hela-S3	cervix
26	chr6:132991000-132991400	Enhancers	HMEC	breast
27	chr6:132991000-132991600	Enhancers	GM12878-XiMat	blood
28	chr6:132991000-132991600	Enhancers	HepG2	liver
29	chr6:132991000-132991800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:132991000-132991800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr6:132991000-132992000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:132991000-132992000	Enhancers	Primary B cells from cord blood	blood
33	chr6:132991000-132992800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:132991000-132993200	Enhancers	Liver	Liver
35	chr6:132991000-132995200	Enhancers	Fetal Intestine Large	intestine
36	chr6:132991000-132995200	Enhancers	Fetal Intestine Small	intestine

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