Variant report

Variant	rs6994686
Chromosome Location	chr8:126011052-126011053
allele	C/T
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	chr8:126010042-126011165	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr8:126010062-126011162	ProgFib	skin:	n/a	n/a
3	SP1	chr8:126010083-126011105	HCT-116	colon:	n/a	chr8:126010700-126010712 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010457-126010467 chr8:126010651-126010661 chr8:126010650-126010662 chr8:126010701-126010710 chr8:126010701-126010711 chr8:126010456-126010468 chr8:126010555-126010576 chr8:126010702-126010711 chr8:126010652-126010661 chr8:126010701-126010710 chr8:126010647-126010661 chr8:126010652-126010661 chr8:126010700-126010712 chr8:126010457-126010467 chr8:126010701-126010711 chr8:126010651-126010660 chr8:126010491-126010501 chr8:126010609-126010630
4	POLR2A	chr8:126010626-126011139	GM12878	blood:	n/a	n/a
5	HDAC2	chr8:126009279-126012568	MCF-7	breast:	n/a	chr8:126011339-126011353 chr8:126012289-126012303 chr8:126011334-126011348 chr8:126009538-126009557
6	HCFC1	chr8:126009962-126013365	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:126010110-126011110	HUVEC	blood vessel:	n/a	n/a
8	FOXP2	chr8:126010280-126011212	PFSK-1	brain:	n/a	n/a
9	CHD2	chr8:126009990-126011282	GM12878	blood:	n/a	chr8:126010527-126010534
10	PML	chr8:126010113-126011070	K562	blood:	n/a	n/a
11	RELA	chr8:126010025-126011660	GM18951	blood:	n/a	n/a
12	ZEB1	chr8:126010737-126011257	GM12878	blood:	n/a	n/a
13	MAX	chr8:126010021-126011322	K562	blood:	n/a	n/a
14	MYC	chr8:126010302-126011206	MCF-7	breast:	n/a	n/a
15	STAT5A	chr8:126010728-126011274	GM12878	blood:	n/a	chr8:126011218-126011230
16	PML	chr8:126010065-126011360	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:126010116-126011234	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:126009988-126011207	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:126010091-126011230	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:126009691-126011173	MCF10A-Er-Src	breast:	n/a	n/a
21	PML	chr8:126009890-126011294	MCF-7	breast:	n/a	n/a
22	MAX	chr8:126009926-126011512	HCT-116	colon:	n/a	chr8:126009942-126009951
23	MXI1	chr8:126009886-126011319	HepG2	liver:	n/a	n/a
24	TAF1	chr8:126010368-126011208	K562	blood:	n/a	n/a
25	FOXM1	chr8:126010549-126011362	GM12878	blood:	n/a	n/a
26	SMARCB1	chr8:126009857-126011267	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr8:126009992-126011463	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr8:126011000-126011150	A549	lung:	n/a	n/a
29	POLR2A	chr8:126010632-126011319	GM12892	blood:	n/a	n/a
30	REST	chr8:126010360-126011452	A549	lung:	n/a	chr8:126010375-126010388 chr8:126010375-126010388
31	EP300	chr8:126010202-126011119	HepG2	liver:	n/a	chr8:126010866-126010875 chr8:126010827-126010836 chr8:126010628-126010637 chr8:126010663-126010679 chr8:126010626-126010635
32	SPI1	chr8:126010727-126011074	GM12878	blood:	n/a	n/a
33	REST	chr8:126010064-126011073	H1-neurons	neurons:	n/a	chr8:126010375-126010388 chr8:126010375-126010388
34	NRF1	chr8:126010200-126011189	SK-N-SH	brain:	n/a	chr8:126010702-126010711 chr8:126010651-126010660 chr8:126010827-126010836
35	POLR2A	chr8:126010128-126011214	GM18526	blood:	n/a	n/a
36	POLR2A	chr8:126009912-126011299	GM15510	blood:	n/a	n/a
37	MAX	chr8:126010073-126011073	ECC-1	luminal epithelium:	n/a	n/a
38	RCOR1	chr8:126010061-126011742	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:126009324-126011465	K562	blood:	n/a	n/a
40	RFX5	chr8:126009446-126011724	SK-N-SH	brain:	n/a	chr8:126010786-126010801 chr8:126009940-126009957 chr8:126010886-126010903 chr8:126009941-126009956 chr8:126010565-126010574 chr8:126010619-126010628
41	EGR1	chr8:126010257-126011330	HCT-116	colon:	n/a	chr8:126010771-126010781 chr8:126010703-126010716 chr8:126010460-126010469 chr8:126010651-126010661 chr8:126010646-126010659 chr8:126010556-126010566 chr8:126010456-126010470 chr8:126010701-126010711 chr8:126010769-126010783
42	POLR2A	chr8:126009487-126011320	K562	blood:	n/a	n/a
43	MXI1	chr8:126009574-126012833	SK-N-SH	brain:	n/a	n/a
44	HEY1	chr8:126009445-126011082	HepG2	liver:	n/a	chr8:126010701-126010716 chr8:126010808-126010823 chr8:126010692-126010707
45	TBL1XR1	chr8:126010221-126011062	GM12878	blood:	n/a	n/a
46	SIN3A	chr8:126009786-126012731	H1-hESC	embryonic stem cell:	n/a	chr8:126010733-126010744 chr8:126010052-126010063
47	MYC	chr8:126010318-126011370	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr8:126010563-126011253	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr8:126010382-126011292	K562	blood:	n/a	chr8:126010626-126010635 chr8:126010868-126010877
50	EGR1	chr8:126010613-126011088	GM12878	blood:	n/a	chr8:126010771-126010781 chr8:126010703-126010716 chr8:126010651-126010661 chr8:126010646-126010659 chr8:126010701-126010711 chr8:126010769-126010783

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126011005-126011055	LNCaP	prostate:	n/a
2	chr8:126011005-126011055	Jurkat	blood:	n/a
3	chr8:126011005-126011055	HL-60	blood:	n/a
4	chr8:126011005-126011055	NT2-D1	testis:	n/a
5	chr8:126011005-126011055	MCF-7	breast:	n/a
6	chr8:126011005-126011055	HCF	heart:	n/a
7	chr8:126011005-126011055	SAEC	small airway:	n/a
8	chr8:126011005-126011055	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:126011005-126011055	SKMC	muscle:	n/a
10	chr8:126011005-126011055	AG04450	lung:	fetal
11	chr8:126011005-126011055	AG09309	skin:	n/a
12	chr8:126011005-126011055	HRE	kidney:	n/a
13	chr8:126011005-126011055	GM12891	blood:	n/a
14	chr8:126011005-126011055	HAEpiC	amniotic membrane:	n/a
15	chr8:126011005-126011055	HCM	heart:	n/a
16	chr8:126011005-126011055	PFSK-1	brain:	n/a
17	chr8:126011005-126011055	ECC-1	luminal epithelium:	n/a
18	chr8:126011005-126011055	AoSMC	blood vessel:	n/a
19	chr8:126011005-126011055	Hela-S3	cervix:	n/a
20	chr8:126011005-126011055	A549	lung:	n/a
21	chr8:126011005-126011055	IMR90	lung:	fetal
22	chr8:126011005-126011055	SK-N-SH	brain:	n/a
23	chr8:126011005-126011055	AG09319	gingival:	n/a
24	chr8:126011005-126011055	AG10803	skin:	n/a
25	chr8:126011005-126011055	Caco-2	colon:	n/a
26	chr8:126011005-126011055	NHDF-neo	bronchial:	n/a
27	chr8:126011005-126011055	GM06990	blood:	n/a
28	chr8:126011005-126011055	U87	brain:	n/a
29	chr8:126011005-126011055	GM12892	blood:	n/a
30	chr8:126011005-126011055	HEEpiC	esophagus:	n/a
31	chr8:126011005-126011055	Hepatocyte	liver:	n/a
32	chr8:126011005-126011055	H1-hESC	embryonic stem cell:	embryo
33	chr8:126011005-126011055	BE2_C	brain:	n/a
34	chr8:126011005-126011055	HUVEC	blood vessel:	n/a
35	chr8:126011005-126011055	SK-N-MC	brain:	n/a
36	chr8:126011005-126011055	HepG2	liver:	n/a
37	chr8:126011005-126011055	NB4	blood:	n/a
38	chr8:126011005-126011055	ovcar-3	ovarian:	n/a
39	chr8:126011005-126011055	SK-N-SH_RA	brain:	n/a
40	chr8:126011005-126011055	NH-A	brain:	n/a
41	chr8:126011005-126011055	AG04449	skin:	fetal
42	chr8:126011005-126011055	T-47D	breast:	n/a
43	chr8:126011005-126011055	PrEC	prostate:	n/a
44	chr8:126011005-126011055	PANC-1	pancreas:	n/a
45	chr8:126011005-126011055	BJ	skin:	n/a
46	chr8:126011005-126011055	HCT-116	colon:	n/a
47	chr8:126011005-126011055	HCPEpiC	choroid plexus:	n/a
48	chr8:126011005-126011055	ProgFib	skin:	n/a
49	chr8:126011005-126011055	RPTEC	kidney:	n/a
50	chr8:126011005-126011055	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125982086..125986890-chr8:126008872..126013713,7	MCF-7	breast:
2	chr5:96270371..96272445-chr8:126010140..126012494,2	MCF-7	breast:
3	chr8:125561947..125564833-chr8:126009022..126011860,2	MCF-7	breast:
4	chr8:125551256..125553908-chr8:126010348..126013536,3	K562	blood:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:125827679..125829366-chr8:126009547..126011817,2	K562	blood:
7	chr8:125984363..125986971-chr8:126010848..126012374,2	K562	blood:
8	chr17:56708310..56710672-chr8:126009685..126011795,2	MCF-7	breast:
9	chr8:125825718..125829730-chr8:126008807..126013107,8	K562	blood:
10	chr8:126010080..126012320-chr8:126100351..126105467,4	MCF-7	breast:
11	chr8:126010242..126013491-chr8:126029890..126034767,9	MCF-7	breast:
12	chr8:125981986..125989189-chr8:126007056..126015447,32	MCF-7	breast:
13	chr8:125549374..125552995-chr8:126009841..126015179,7	MCF-7	breast:
14	chr8:125984363..125986150-chr8:126010874..126012415,2	K562	blood:
15	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:

Variant related genes	Relation type
ENSG00000253513	TF binding region
ENSG00000253513	CpG island
ENSG00000255491	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000180938	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10095831	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10105106	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs10107103	0.89[YRI][hapmap];0.90[AFR][1000 genomes]
rs10107456	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10107535	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10107774	0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs10110658	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10113187	0.90[AFR][1000 genomes]
rs10216983	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs28373620	0.90[AFR][1000 genomes]
rs28426979	0.90[AFR][1000 genomes]
rs28478462	0.85[AFR][1000 genomes]
rs28483573	0.87[AFR][1000 genomes]
rs28499344	0.90[AFR][1000 genomes]
rs28537766	0.87[AFR][1000 genomes]
rs28612361	0.90[AFR][1000 genomes]
rs28654092	0.90[AFR][1000 genomes]
rs28656968	0.90[AFR][1000 genomes]
rs28684823	0.90[AFR][1000 genomes]
rs28705718	0.90[AFR][1000 genomes]
rs28711324	0.90[AFR][1000 genomes]
rs28714194	0.90[AFR][1000 genomes]
rs28808359	0.90[AFR][1000 genomes]
rs28813511	0.90[AFR][1000 genomes]
rs28816450	0.90[AFR][1000 genomes]
rs28829886	0.90[AFR][1000 genomes]
rs28869565	0.90[AFR][1000 genomes]
rs34299285	0.84[AFR][1000 genomes]
rs3853255	0.84[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987181	0.90[AFR][1000 genomes]
rs6987278	0.90[AFR][1000 genomes]
rs6990024	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6995007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003311	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7007356	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7012488	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73704505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73706182	0.90[AFR][1000 genomes]
rs73706183	0.87[AFR][1000 genomes]
rs73706186	0.83[AFR][1000 genomes]
rs73706188	0.90[AFR][1000 genomes]
rs73706192	0.90[AFR][1000 genomes]
rs73707910	0.90[AFR][1000 genomes]
rs73707911	0.90[AFR][1000 genomes]
rs73707912	0.90[AFR][1000 genomes]
rs73707913	0.90[AFR][1000 genomes]
rs73707915	0.90[AFR][1000 genomes]
rs73707916	0.90[AFR][1000 genomes]
rs73707917	0.90[AFR][1000 genomes]
rs73707918	0.90[AFR][1000 genomes]
rs73707923	0.88[AFR][1000 genomes]
rs73707924	0.88[AFR][1000 genomes]
rs7812303	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7815271	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828622	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7829785	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7830483	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7830592	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9297706	0.90[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 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	chr8:126009400-126014000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:126009600-126011400	Active TSS	Rectal Smooth Muscle	rectum
3	chr8:126009800-126011200	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr8:126009800-126011200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:126009800-126011400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:126009800-126011800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:126009800-126012200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:126009800-126012200	Active TSS	Brain Hippocampus Middle	brain
9	chr8:126009800-126013000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:126009800-126013400	Active TSS	Fetal Stomach	stomach
11	chr8:126009800-126013600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:126009800-126013800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:126009800-126014200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:126009800-126014200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:126009800-126014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:126009800-126014400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:126009800-126014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:126009800-126014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:126009800-126015000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:126009800-126015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:126009800-126015000	Active TSS	Brain Cingulate Gyrus	brain
22	chr8:126010000-126011200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr8:126010000-126011200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:126010000-126011200	Active TSS	Colon Smooth Muscle	Colon
25	chr8:126010000-126011200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr8:126010000-126011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:126010000-126011600	Active TSS	Psoas Muscle	Psoas
28	chr8:126010000-126012000	Active TSS	Fetal Kidney	kidney
29	chr8:126010000-126012400	Active TSS	Aorta	Aorta
30	chr8:126010000-126013800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:126010000-126014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:126010000-126014200	Bivalent/Poised TSS	HepG2	liver
33	chr8:126010000-126014200	Active TSS	K562	blood
34	chr8:126010000-126014400	Active TSS	Brain Angular Gyrus	brain
35	chr8:126010000-126014600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:126010000-126014600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:126010000-126014600	Active TSS	NHLF	lung
38	chr8:126010000-126015000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:126010000-126015200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:126010000-126015400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:126010200-126011200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:126010200-126011200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:126010200-126011200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:126010200-126011200	Active TSS	Duodenum Mucosa	Duodenum
45	chr8:126010200-126011200	Active TSS	Placenta	Placenta
46	chr8:126010200-126011200	Active TSS	Left Ventricle	heart
47	chr8:126010200-126011200	Active TSS	Pancreas	Pancrea
48	chr8:126010200-126011600	Active TSS	Brain Anterior Caudate	brain
49	chr8:126010200-126011600	Active TSS	Fetal Intestine Small	intestine
50	chr8:126010200-126011600	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links