Variant report

Variant	rs7829755
Chromosome Location	chr8:99956612-99956613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:99956299-99956682	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:99954465-99959161	H1-neurons	neurons:	n/a	n/a
3	ELF1	chr8:99956454-99957172	GM12878	blood:	n/a	chr8:99956566-99956575
4	YY1	chr8:99956536-99957091	ECC-1	luminal epithelium:	n/a	chr8:99957021-99957032 chr8:99956560-99956574
5	FOXA1	chr8:99956333-99956791	HepG2	liver:	n/a	n/a
6	BCLAF1	chr8:99956273-99957057	GM12878	blood:	n/a	chr8:99956564-99956573
7	RAD21	chr8:99956448-99957196	ECC-1	luminal epithelium:	n/a	n/a
8	PAX5	chr8:99956285-99957024	GM12878	blood:	n/a	n/a
9	E2F4	chr8:99956387-99957137	K562	blood:	n/a	chr8:99956626-99956635 chr8:99956685-99956694
10	TAF1	chr8:99956333-99957447	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr8:99956463-99956850	GM12892	blood:	n/a	n/a
12	ELK1	chr8:99956496-99957195	Hela-S3	cervix:	n/a	n/a
13	REST	chr8:99956409-99956781	K562	blood:	n/a	chr8:99956697-99956710 chr8:99956579-99956589 chr8:99956668-99956681
14	ZNF263	chr8:99956328-99958503	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr8:99956361-99957039	GM19193	blood:	n/a	n/a
16	CHD1	chr8:99956144-99957060	GM12878	blood:	n/a	n/a
17	ZNF143	chr8:99956387-99957133	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:99954510-99959523	H1-neurons	neurons:	n/a	n/a
19	MYC	chr8:99956609-99956785	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr8:99956446-99956962	PFSK-1	brain:	n/a	n/a
21	TAF1	chr8:99956254-99957966	MCF-7	breast:	n/a	n/a
22	HEY1	chr8:99956450-99956881	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:99956319-99957048	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr8:99956495-99956919	GM12878	blood:	n/a	n/a
25	UBTF	chr8:99956425-99957965	K562	blood:	n/a	n/a
26	POLR2A	chr8:99956518-99956904	GM10847	blood:	n/a	n/a
27	MAZ	chr8:99956336-99957119	K562	blood:	n/a	n/a
28	POLR2A	chr8:99956449-99956945	GM12878	blood:	n/a	n/a
29	RAD21	chr8:99956185-99958105	MCF-7	breast:	n/a	chr8:99957447-99957460
30	POLR2A	chr8:99956357-99957064	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:99956379-99957038	U87	brain:	n/a	n/a
32	USF1	chr8:99956391-99956863	A549	lung:	n/a	n/a
33	PBX3	chr8:99956452-99956956	A549	lung:	n/a	n/a
34	POLR2A	chr8:99956382-99957085	K562	blood:	n/a	n/a
35	FOXA2	chr8:99956235-99956913	A549	lung:	n/a	n/a
36	POLR2A	chr8:99956256-99956922	PFSK-1	brain:	n/a	n/a
37	TAF1	chr8:99956432-99956865	GM12878	blood:	n/a	n/a
38	MAX	chr8:99956261-99957759	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr8:99956341-99956893	K562	blood:	n/a	n/a
40	TAF1	chr8:99956480-99956845	GM12891	blood:	n/a	n/a
41	HEY1	chr8:99956239-99957177	K562	blood:	n/a	n/a
42	MAFK	chr8:99956489-99956788	Hela-S3	cervix:	n/a	n/a
43	BHLHE40	chr8:99956127-99957925	K562	blood:	n/a	chr8:99957412-99957428
44	E2F6	chr8:99956336-99957984	H1-hESC	embryonic stem cell:	n/a	chr8:99956626-99956635 chr8:99956685-99956694 chr8:99957413-99957423
45	HCFC1	chr8:99956412-99956974	K562	blood:	n/a	n/a
46	HDAC2	chr8:99956177-99957992	MCF-7	breast:	n/a	n/a
47	YY1	chr8:99956413-99956888	HepG2	liver:	n/a	chr8:99956560-99956574
48	FOXA1	chr8:99956370-99956760	T-47D	breast:	n/a	n/a
49	MXI1	chr8:99956181-99957405	K562	blood:	n/a	n/a
50	MYC	chr8:99956442-99956885	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99956574-99956624	HEK293	kidney:	embryo
2	chr8:99956574-99956624	A549	lung:	n/a
3	chr8:99956574-99956624	HNPCEpiC	eye:	n/a
4	chr8:99956585-99956635	HIPEpiC	eye:	n/a
5	chr8:99956574-99956624	AG04450	lung:	fetal
6	chr8:99956585-99956635	AoSMC	blood vessel:	n/a
7	chr8:99956574-99956624	HUVEC	blood vessel:	n/a
8	chr8:99956585-99956635	HepG2	liver:	n/a
9	chr8:99956574-99956624	NH-A	brain:	n/a
10	chr8:99956574-99956624	SK-N-MC	brain:	n/a
11	chr8:99956574-99956624	GM12892	blood:	n/a
12	chr8:99956585-99956635	H1-hESC	embryonic stem cell:	embryo
13	chr8:99956585-99956635	HL-60	blood:	n/a
14	chr8:99956574-99956624	MCF10A-Er-Src	breast:	n/a
15	chr8:99956574-99956624	GM12878	blood:	n/a
16	chr8:99956585-99956635	HPAEpiC	pulmonary alveolar:	n/a
17	chr8:99956574-99956624	Hepatocyte	liver:	n/a
18	chr8:99956585-99956635	HUVEC	blood vessel:	n/a
19	chr8:99956574-99956624	GM12891	blood:	n/a
20	chr8:99956585-99956635	AG09309	skin:	n/a
21	chr8:99956574-99956624	SAEC	small airway:	n/a
22	chr8:99956574-99956624	AoSMC	blood vessel:	n/a
23	chr8:99956585-99956635	HAEpiC	amniotic membrane:	n/a
24	chr8:99956585-99956635	Caco-2	colon:	n/a
25	chr8:99956574-99956624	BE2_C	brain:	n/a
26	chr8:99956585-99956635	SK-N-SH_RA	brain:	n/a
27	chr8:99956585-99956635	SKMC	muscle:	n/a
28	chr8:99956585-99956635	NH-A	brain:	n/a
29	chr8:99956574-99956624	GM06990	blood:	n/a
30	chr8:99956585-99956635	NB4	blood:	n/a
31	chr8:99956574-99956624	HRPEpiC	eye:	n/a
32	chr8:99956585-99956635	NHDF-neo	bronchial:	n/a
33	chr8:99956574-99956624	HAEpiC	amniotic membrane:	n/a
34	chr8:99956585-99956635	HRCEpiC	kidney:	n/a
35	chr8:99956585-99956635	A549	lung:	n/a
36	chr8:99956585-99956635	HEEpiC	esophagus:	n/a
37	chr8:99956574-99956624	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:99956574-99956624	SKMC	muscle:	n/a
39	chr8:99956585-99956635	AG04450	lung:	fetal
40	chr8:99956585-99956635	NHBE	bronchial:	n/a
41	chr8:99956574-99956624	ECC-1	luminal epithelium:	n/a
42	chr8:99956585-99956635	BJ	skin:	n/a
43	chr8:99956574-99956624	T-47D	breast:	n/a
44	chr8:99956585-99956635	Hepatocyte	liver:	n/a
45	chr8:99956585-99956635	BE2_C	brain:	n/a
46	chr8:99956574-99956624	HL-60	blood:	n/a
47	chr8:99956585-99956635	ovcar-3	ovarian:	n/a
48	chr8:99956574-99956624	IMR90	lung:	fetal
49	chr8:99956585-99956635	PrEC	prostate:	n/a
50	chr8:99956585-99956635	U87	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99835536..99838329-chr8:99956256..99958052,2	MCF-7	breast:
2	chr8:99954936..99956657-chr8:100904324..100906629,2	MCF-7	breast:
3	chr8:99955273..99957309-chr8:100023910..100025896,2	K562	blood:
4	chr8:99956335..99957904-chr8:100286239..100289117,2	MCF-7	breast:
5	chr8:99836199..99839281-chr8:99955647..99960130,4	K562	blood:
6	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
7	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
8	chr8:99836481..99839453-chr8:99955374..99958557,4	MCF-7	breast:
9	chr8:99836684..99839127-chr8:99955180..99958109,2	K562	blood:
10	chr8:99661906..99664329-chr8:99956094..99958895,2	MCF-7	breast:
11	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:

No data

Variant related genes	Relation type
OSR2	TF binding region
STK3	TF binding region
OSR2	CpG island
STK3	CpG island
ENSG00000263842	Chromatin interaction
ENSG00000164919	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs4585723	1.00[AMR][1000 genomes]
rs58433985	1.00[AMR][1000 genomes]
rs60588461	1.00[AMR][1000 genomes]
rs6982060	1.00[AMR][1000 genomes]
rs6999016	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277807	1.00[AMR][1000 genomes]
rs73277809	1.00[AMR][1000 genomes]
rs73277812	1.00[AMR][1000 genomes]
rs73277822	1.00[AMR][1000 genomes]
rs73277859	1.00[AMR][1000 genomes]
rs73277866	1.00[AMR][1000 genomes]
rs73277869	1.00[AMR][1000 genomes]
rs73277870	1.00[AMR][1000 genomes]
rs73277872	1.00[AMR][1000 genomes]
rs73277876	1.00[AMR][1000 genomes]
rs73277884	1.00[AMR][1000 genomes]
rs73277895	1.00[AMR][1000 genomes]
rs73277897	1.00[AMR][1000 genomes]
rs73279716	1.00[AMR][1000 genomes]
rs73279717	1.00[AMR][1000 genomes]
rs73279718	1.00[AMR][1000 genomes]
rs73279721	1.00[AMR][1000 genomes]
rs73279722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279723	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279736	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279749	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279767	1.00[AMR][1000 genomes]
rs73281614	1.00[AMR][1000 genomes]
rs73281620	1.00[AMR][1000 genomes]
rs73281629	1.00[AMR][1000 genomes]
rs73281632	1.00[AMR][1000 genomes]
rs73281661	1.00[AMR][1000 genomes]
rs73281671	1.00[AMR][1000 genomes]
rs73281672	1.00[AMR][1000 genomes]
rs73281685	1.00[AMR][1000 genomes]
rs73281686	1.00[AMR][1000 genomes]
rs73281692	1.00[AMR][1000 genomes]
rs73281693	1.00[AMR][1000 genomes]
rs73281695	1.00[AMR][1000 genomes]
rs73285919	1.00[AMR][1000 genomes]
rs7818030	1.00[AMR][1000 genomes]
rs7826107	1.00[AMR][1000 genomes]
rs7841627	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr8:99951600-99961600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:99952200-99961400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:99952400-99960800	Active TSS	Ovary	ovary
4	chr8:99953400-99959800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:99954200-99960200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr8:99954800-99960000	Active TSS	NHDF-Ad	bronchial
7	chr8:99955000-99957400	Weak transcription	Dnd41	blood
8	chr8:99955000-99959400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:99955800-99957200	Active TSS	NHLF	lung
10	chr8:99955800-99959000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:99955800-99959400	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr8:99956000-99956800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
13	chr8:99956000-99956800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
14	chr8:99956000-99956800	Active TSS	Placenta	Placenta
15	chr8:99956000-99957400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
16	chr8:99956000-99957400	Active TSS	HSMMtube	muscle
17	chr8:99956000-99958000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
18	chr8:99956000-99958000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
19	chr8:99956000-99958000	Active TSS	HSMM	muscle
20	chr8:99956000-99958200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
21	chr8:99956000-99958600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:99956000-99958600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr8:99956000-99958800	Active TSS	Aorta	Aorta
24	chr8:99956000-99958800	Active TSS	A549	lung
25	chr8:99956000-99959800	Active TSS	Psoas Muscle	Psoas
26	chr8:99956200-99956800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
27	chr8:99956200-99956800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr8:99956200-99957000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:99956200-99957000	Bivalent/Poised TSS	Colonic Mucosa	Colon
30	chr8:99956200-99957000	Bivalent/Poised TSS	Esophagus	oesophagus
31	chr8:99956200-99957000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr8:99956200-99957200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:99956200-99957200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr8:99956200-99957200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr8:99956200-99957200	Active TSS	GM12878-XiMat	blood
36	chr8:99956200-99957200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
37	chr8:99956200-99957400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr8:99956200-99957400	Bivalent/Poised TSS	Thymus	Thymus
39	chr8:99956200-99957600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:99956200-99957800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
41	chr8:99956200-99957800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
42	chr8:99956200-99958000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
43	chr8:99956200-99958000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:99956200-99958000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:99956200-99958400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr8:99956200-99958600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr8:99956200-99959000	Active TSS	K562	blood
48	chr8:99956200-99959000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr8:99956400-99956800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:99956400-99956800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood

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