Variant report

Variant	rs571040951
Chromosome Location	chr8:67687484-67687485
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	PML	chr8:67686567-67687714	K562	blood:	n/a	n/a
2	CTCF	chr8:67687459-67687572	NHEK	skin:	n/a	n/a
3	POLR2A	chr8:67687018-67687957	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr8:67687046-67687979	K562	blood:	n/a	n/a
5	ELF1	chr8:67687055-67687992	GM12878	blood:	n/a	chr8:67687605-67687617
6	CTCF	chr8:67687483-67687541	ProgFib	skin:	n/a	n/a
7	MYC	chr8:67687341-67687733	MCF-7	breast:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
8	TAF1	chr8:67687247-67687664	K562	blood:	n/a	n/a
9	ELK1	chr8:67687303-67687682	GM12878	blood:	n/a	n/a
10	E2F1	chr8:67686975-67687939	Hela-S3	cervix:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
11	CTCF	chr8:67687406-67687487	GM13977	blood:	n/a	chr8:67687420-67687428
12	CREB1	chr8:67687272-67687628	A549	lung:	n/a	n/a
13	MTA3	chr8:67686988-67687584	GM12878	blood:	n/a	n/a
14	CTCF	chr8:67687440-67687590	HepG2	liver:	n/a	n/a
15	HEY1	chr8:67687340-67687913	HepG2	liver:	n/a	n/a
16	CEBPD	chr8:67687356-67687826	HepG2	liver:	n/a	n/a
17	MYC	chr8:67687229-67687957	Hela-S3	cervix:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
18	CTCF	chr8:67687468-67687516	Pancreas_OC	pancreas:	n/a	n/a
19	PAX5	chr8:67687349-67687846	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:67686681-67688096	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:67686957-67687915	PANC-1	pancreas:	n/a	n/a
22	EP300	chr8:67687464-67687847	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:67687138-67687948	GM19099	blood:	n/a	n/a
24	SIN3AK20	chr8:67687286-67687889	K562	blood:	n/a	n/a
25	MAX	chr8:67686697-67687990	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
26	CTCF	chr8:67687420-67687570	HL-60	blood:	n/a	chr8:67687420-67687428
27	POLR2A	chr8:67687137-67687888	GM10847	blood:	n/a	n/a
28	E2F6	chr8:67686872-67688031	H1-hESC	embryonic stem cell:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
29	POLR2A	chr8:67687353-67687919	H1-hESC	embryonic stem cell:	n/a	n/a
30	SRF	chr8:67687191-67687608	H1-hESC	embryonic stem cell:	n/a	chr8:67687355-67687369 chr8:67687341-67687351 chr8:67687353-67687370 chr8:67687391-67687401
31	CTCF	chr8:67687481-67687564	Gliobla	brain:	n/a	n/a
32	CTCF	chr8:67687400-67687550	GM12874	blood:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
33	CCNT2	chr8:67687156-67687856	K562	blood:	n/a	chr8:67687410-67687419
34	TAF1	chr8:67687172-67687710	A549	lung:	n/a	n/a
35	TAL1	chr8:67687312-67687651	K562	blood:	n/a	n/a
36	POLR2A	chr8:67687236-67687830	A549	lung:	n/a	n/a
37	NFYB	chr8:67687291-67687566	Hela-S3	cervix:	n/a	chr8:67687381-67687396 chr8:67687382-67687392
38	CTCF	chr8:67687340-67687490	GM12868	blood:	n/a	chr8:67687420-67687428 chr8:67687404-67687417
39	EGR1	chr8:67687022-67687688	K562	blood:	n/a	chr8:67687406-67687420 chr8:67687410-67687420 chr8:67687176-67687189 chr8:67687387-67687401
40	FOXP2	chr8:67687083-67687818	PFSK-1	brain:	n/a	n/a
41	GTF2F1	chr8:67687032-67687500	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZEB1	chr8:67687279-67687841	GM12878	blood:	n/a	n/a
43	FOXA1	chr8:67687011-67687507	T-47D	breast:	n/a	n/a
44	ZBTB7A	chr8:67687394-67687921	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr8:67686906-67687909	ECC-1	luminal epithelium:	n/a	n/a
46	USF2	chr8:67687326-67687786	GM12878	blood:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
47	MAX	chr8:67687085-67687899	A549	lung:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
48	CTCF	chr8:67687420-67687559	MCF-7	breast:	n/a	chr8:67687420-67687428
49	POLR2A	chr8:67686920-67688072	Hela-S3	cervix:	n/a	n/a
50	HA-E2F1	chr8:67686732-67688122	MCF-7	breast:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67687455-67687505	LNCaP	prostate:	n/a
2	chr8:67687474-67687524	CMK	blood:	n/a
3	chr8:67687437-67687487	SKMC	muscle:	n/a
4	chr8:67687455-67687505	Caco-2	colon:	n/a
5	chr8:67687474-67687524	HNPCEpiC	eye:	n/a
6	chr8:67687474-67687524	PrEC	prostate:	n/a
7	chr8:67687474-67687524	SK-N-MC	brain:	n/a
8	chr8:67687474-67687524	AG04450	lung:	fetal
9	chr8:67687437-67687487	Hepatocyte	liver:	n/a
10	chr8:67687474-67687524	NT2-D1	testis:	n/a
11	chr8:67687437-67687487	SK-N-SH_RA	brain:	n/a
12	chr8:67687455-67687505	SAEC	small airway:	n/a
13	chr8:67687474-67687524	HCM	heart:	n/a
14	chr8:67687455-67687505	PrEC	prostate:	n/a
15	chr8:67687437-67687487	AG04450	lung:	fetal
16	chr8:67687437-67687487	HCPEpiC	choroid plexus:	n/a
17	chr8:67687455-67687505	GM12878	blood:	n/a
18	chr8:67687437-67687487	K562	blood:	n/a
19	chr8:67687474-67687524	NH-A	brain:	n/a
20	chr8:67687437-67687487	AG09319	gingival:	n/a
21	chr8:67687474-67687524	HEK293	kidney:	embryo
22	chr8:67687437-67687487	GM12878	blood:	n/a
23	chr8:67687437-67687487	HEEpiC	esophagus:	n/a
24	chr8:67687474-67687524	MCF-7	breast:	n/a
25	chr8:67687437-67687487	PANC-1	pancreas:	n/a
26	chr8:67687437-67687487	ECC-1	luminal epithelium:	n/a
27	chr8:67687455-67687505	HIPEpiC	eye:	n/a
28	chr8:67687455-67687505	U87	brain:	n/a
29	chr8:67687437-67687487	HRE	kidney:	n/a
30	chr8:67687437-67687487	HCT-116	colon:	n/a
31	chr8:67687474-67687524	ECC-1	luminal epithelium:	n/a
32	chr8:67687474-67687524	AG09309	skin:	n/a
33	chr8:67687437-67687487	GM19239	blood:	n/a
34	chr8:67687455-67687505	HRCEpiC	kidney:	n/a
35	chr8:67687474-67687524	NHBE	bronchial:	n/a
36	chr8:67687437-67687487	AG09309	skin:	n/a
37	chr8:67687455-67687505	NT2-D1	testis:	n/a
38	chr8:67687474-67687524	HRPEpiC	eye:	n/a
39	chr8:67687455-67687505	BJ	skin:	n/a
40	chr8:67687474-67687524	GM12892	blood:	n/a
41	chr8:67687455-67687505	MCF-7	breast:	n/a
42	chr8:67687437-67687487	IMR90	lung:	fetal
43	chr8:67687437-67687487	Hela-S3	cervix:	n/a
44	chr8:67687437-67687487	AG10803	skin:	n/a
45	chr8:67687455-67687505	HCM	heart:	n/a
46	chr8:67687455-67687505	HRPEpiC	eye:	n/a
47	chr8:67687455-67687505	HEK293	kidney:	embryo
48	chr8:67687455-67687505	NH-A	brain:	n/a
49	chr8:67687474-67687524	Hepatocyte	liver:	n/a
50	chr8:67687437-67687487	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67524115..67526215-chr8:67685855..67687886,2	K562	blood:
2	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
3	chr8:67687366..67688870-chr8:67714479..67716823,2	MCF-7	breast:
4	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
5	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:
6	chr14:20922332..20925092-chr8:67686115..67688747,2	MCF-7	breast:
7	chr17:56756420..56757356-chr8:67687029..67687539,2	Hela-S3	cervix:
8	chr19:10764662..10765449-chr8:67687390..67687995,2	Hela-S3	cervix:
9	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:
10	chr20:26190004..26190733-chr8:67687205..67687727,4	MCF-7	breast:
11	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:

Variant related genes	Relation type
SGK3	TF binding region
SGK3	CpG island
ENSG00000200997	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000213005	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000227195	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3405382	chr8:67686223-67688771	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 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	chr8:67686400-67688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:67686400-67688000	Active TSS	Brain Germinal Matrix	brain
3	chr8:67686400-67688000	Active TSS	Osteobl	bone
4	chr8:67686400-67688200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:67686400-67688400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:67686400-67688400	Active TSS	Colonic Mucosa	Colon
7	chr8:67686400-67688400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:67686400-67688400	Active TSS	Right Atrium	heart
9	chr8:67686400-67688600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:67686400-67688600	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:67686400-67688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:67686400-67689200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:67686600-67687600	Active TSS	Fetal Brain Male	brain
14	chr8:67686600-67687800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:67686600-67687800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:67686600-67687800	Active TSS	HSMMtube	muscle
17	chr8:67686600-67687800	Active TSS	NH-A	brain
18	chr8:67686600-67688000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:67686600-67688000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:67686600-67688000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr8:67686600-67688000	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr8:67686600-67688000	Active TSS	Duodenum Mucosa	Duodenum
23	chr8:67686600-67688000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:67686600-67688000	Active TSS	Fetal Kidney	kidney
25	chr8:67686600-67688000	Active TSS	HSMM	muscle
26	chr8:67686600-67688000	Active TSS	NHDF-Ad	bronchial
27	chr8:67686600-67688200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:67686600-67688200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:67686600-67688200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:67686600-67688200	Active TSS	Fetal Heart	heart
31	chr8:67686600-67688200	Active TSS	Gastric	stomach
32	chr8:67686600-67688200	Active TSS	Left Ventricle	heart
33	chr8:67686600-67688200	Active TSS	Right Ventricle	heart
34	chr8:67686600-67688200	Active TSS	NHLF	lung
35	chr8:67686600-67688400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:67686600-67688400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:67686600-67688400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:67686600-67688400	Active TSS	Aorta	Aorta
39	chr8:67686600-67688400	Active TSS	Brain Anterior Caudate	brain
40	chr8:67686600-67688400	Active TSS	Brain Hippocampus Middle	brain
41	chr8:67686600-67688400	Active TSS	Ovary	ovary
42	chr8:67686600-67688600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:67686600-67688600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:67686600-67688600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:67686600-67688600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:67686600-67688600	Active TSS	Psoas Muscle	Psoas
47	chr8:67686600-67688600	Active TSS	Rectal Smooth Muscle	rectum
48	chr8:67686800-67687600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:67686800-67687800	Active TSS	Fetal Lung	lung
50	chr8:67686800-67688000	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links