Variant report

Variant	rs373521678
Chromosome Location	chr8:95566512-95566513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr8:95565100-95566883	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:95565340-95566855	GM12892	blood:	n/a	n/a
3	MAX	chr8:95565384-95566598	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr8:95565300-95566765	HUVEC	blood vessel:	n/a	n/a
5	REST	chr8:95565309-95566534	HL-60	blood:	n/a	chr8:95565720-95565733
6	POLR2A	chr8:95565350-95566755	K562	blood:	n/a	n/a
7	GABPA	chr8:95564622-95566713	MCF-7	breast:	n/a	chr8:95565683-95565692
8	FOXA1	chr8:95566332-95566765	T-47D	breast:	n/a	chr8:95566564-95566579
9	TCF12	chr8:95565063-95566573	A549	lung:	n/a	n/a
10	POLR2A	chr8:95565482-95566554	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:95565368-95566664	HL-60	blood:	n/a	n/a
12	POLR2A	chr8:95565314-95566535	GM12878	blood:	n/a	n/a
13	MAX	chr8:95566148-95566861	A549	lung:	n/a	n/a
14	BHLHE40	chr8:95565323-95566674	GM12878	blood:	n/a	n/a
15	REST	chr8:95564985-95566553	H1-neurons	neurons:	n/a	chr8:95565720-95565733
16	POLR2A	chr8:95565430-95566514	SK-N-SH	brain:	n/a	n/a
17	TBL1XR1	chr8:95565483-95566891	K562	blood:	n/a	n/a
18	MYC	chr8:95565410-95566859	K562	blood:	n/a	n/a
19	MAX	chr8:95565512-95566562	K562	blood:	n/a	n/a
20	POLR2A	chr8:95565262-95566523	ProgFib	skin:	n/a	n/a
21	POLR2A	chr8:95565022-95566820	GM12878	blood:	n/a	n/a
22	ZNF384	chr8:95565434-95566889	K562	blood:	n/a	n/a
23	MYC	chr8:95565468-95566894	K562	blood:	n/a	n/a
24	RELA	chr8:95565251-95566695	GM15510	blood:	n/a	n/a
25	POLR2A	chr8:95565458-95566627	NB4	blood:	n/a	n/a
26	MAX	chr8:95565299-95566598	Hela-S3	cervix:	n/a	n/a
27	PML	chr8:95565418-95566585	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:95565447-95566561	K562	blood:	n/a	n/a
29	POLR2A	chr8:95565349-95566521	K562	blood:	n/a	n/a
30	MAX	chr8:95566317-95566630	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr8:95565277-95566801	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr8:95565066-95566638	MCF-7	breast:	n/a	n/a
33	GATA1	chr8:95565220-95566930	PBDE	blood:	n/a	chr8:95566111-95566122
34	STAT3	chr8:95566384-95566571	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:95565460-95566728	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr8:95565190-95566816	GM12891	blood:	n/a	n/a
37	ZC3H11A	chr8:95565444-95566683	K562	blood:	n/a	n/a
38	POLR2A	chr8:95565165-95566602	MCF10A-Er-Src	breast:	n/a	n/a
39	TEAD4	chr8:95565459-95566551	K562	blood:	n/a	n/a
40	POLR2A	chr8:95565328-95566814	PBDE	blood:	n/a	n/a
41	POLR2A	chr8:95565463-95566894	K562	blood:	n/a	n/a
42	MAX	chr8:95566347-95566570	GM12878	blood:	n/a	n/a
43	IRF1	chr8:95565019-95566860	K562	blood:	n/a	chr8:95565095-95565102 chr8:95565896-95565905 chr8:95565836-95565850
44	MAX	chr8:95565233-95566878	A549	lung:	n/a	n/a
45	POLR2A	chr8:95566162-95566514	K562	blood:	n/a	n/a
46	TBP	chr8:95565494-95566567	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:95565359-95566819	GM19099	blood:	n/a	n/a
48	EP300	chr8:95565375-95566568	K562	blood:	n/a	chr8:95565706-95565713 chr8:95565766-95565773
49	MAX	chr8:95565373-95566632	NB4	blood:	n/a	n/a
50	ARID3A	chr8:95565426-95566634	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95566476-95566526	HNPCEpiC	eye:	n/a
2	chr8:95566476-95566526	NHDF-neo	bronchial:	n/a
3	chr8:95566476-95566526	HPAEpiC	pulmonary alveolar:	n/a
4	chr8:95566476-95566526	PANC-1	pancreas:	n/a
5	chr8:95566476-95566526	PFSK-1	brain:	n/a
6	chr8:95566476-95566526	CMK	blood:	n/a
7	chr8:95566476-95566526	SAEC	small airway:	n/a
8	chr8:95566476-95566526	GM12878	blood:	n/a
9	chr8:95566476-95566526	GM06990	blood:	n/a
10	chr8:95566476-95566526	GM12891	blood:	n/a
11	chr8:95566476-95566526	HRPEpiC	eye:	n/a
12	chr8:95566476-95566526	HCT-116	colon:	n/a
13	chr8:95566476-95566526	SK-N-MC	brain:	n/a
14	chr8:95566476-95566526	T-47D	breast:	n/a
15	chr8:95566476-95566526	K562	blood:	n/a
16	chr8:95566476-95566526	BE2_C	brain:	n/a
17	chr8:95566476-95566526	HepG2	liver:	n/a
18	chr8:95566476-95566526	HCM	heart:	n/a
19	chr8:95566476-95566526	SK-N-SH_RA	brain:	n/a
20	chr8:95566476-95566526	SKMC	muscle:	n/a
21	chr8:95566476-95566526	SK-N-SH	brain:	n/a
22	chr8:95566476-95566526	HCPEpiC	choroid plexus:	n/a
23	chr8:95566476-95566526	RPTEC	kidney:	n/a
24	chr8:95566476-95566526	ProgFib	skin:	n/a
25	chr8:95566476-95566526	Hela-S3	cervix:	n/a
26	chr8:95566476-95566526	AG09319	gingival:	n/a
27	chr8:95566476-95566526	HAEpiC	amniotic membrane:	n/a
28	chr8:95566476-95566526	MCF-7	breast:	n/a
29	chr8:95566476-95566526	GM19239	blood:	n/a
30	chr8:95566476-95566526	LNCaP	prostate:	n/a
31	chr8:95566476-95566526	NT2-D1	testis:	n/a
32	chr8:95566476-95566526	HMEC	breast:	n/a
33	chr8:95566476-95566526	NH-A	brain:	n/a
34	chr8:95566476-95566526	HUVEC	blood vessel:	n/a
35	chr8:95566476-95566526	ECC-1	luminal epithelium:	n/a
36	chr8:95566476-95566526	BJ	skin:	n/a
37	chr8:95566476-95566526	Hepatocyte	liver:	n/a
38	chr8:95566476-95566526	Jurkat	blood:	n/a
39	chr8:95566476-95566526	AG04450	lung:	fetal
40	chr8:95566476-95566526	Caco-2	colon:	n/a
41	chr8:95566476-95566526	AG10803	skin:	n/a
42	chr8:95566476-95566526	HCF	heart:	n/a
43	chr8:95566476-95566526	ovcar-3	ovarian:	n/a
44	chr8:95566476-95566526	HRE	kidney:	n/a
45	chr8:95566476-95566526	NB4	blood:	n/a
46	chr8:95566476-95566526	NHBE	bronchial:	n/a
47	chr8:95566476-95566526	AoSMC	blood vessel:	n/a
48	chr8:95566476-95566526	AG04449	skin:	fetal
49	chr8:95566476-95566526	MCF10A-Er-Src	breast:	n/a
50	chr8:95566476-95566526	U87	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95564633..95567300-chr8:95651331..95653603,2	MCF-7	breast:
2	chr8:95564818..95567463-chr8:95729750..95733556,7	MCF-7	breast:
3	chr8:95554974..95557880-chr8:95564950..95566849,3	MCF-7	breast:
4	chr8:95564312..95566828-chr8:95731001..95732970,2	MCF-7	breast:
5	chr8:95565366..95567177-chr8:96036825..96038672,2	K562	blood:

No data

Variant related genes	Relation type
KIAA1429	TF binding region
KIAA1429	CpG island
ENSG00000104413	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017256	chr8:95555083-95570079	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1026768	chr8:95556054-95569566	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1033345	chr8:95556375-95570533	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv438072	chr8:95558694-95571443	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv971684	chr8:95566071-95577827	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95563400-95566800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:95564000-95567000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:95564200-95566600	Active TSS	Fetal Muscle Leg	muscle
4	chr8:95564200-95566800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:95564200-95567000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:95564200-95567000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:95564200-95567000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:95564200-95567200	Active TSS	HMEC	breast
9	chr8:95564200-95567200	Active TSS	K562	blood
10	chr8:95564400-95566800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:95564400-95567000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:95564400-95567000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:95564400-95567000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:95564400-95567000	Active TSS	Aorta	Aorta
15	chr8:95564400-95567000	Active TSS	Fetal Intestine Large	intestine
16	chr8:95564400-95567000	Active TSS	Right Atrium	heart
17	chr8:95564400-95567200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:95564400-95567200	Active TSS	NHLF	lung
19	chr8:95564600-95566800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:95564600-95566800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:95564600-95566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:95564600-95567000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:95564600-95567000	Active TSS	Fetal Kidney	kidney
24	chr8:95564600-95567000	Active TSS	HSMMtube	muscle
25	chr8:95564600-95567200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr8:95564600-95567200	Active TSS	A549	lung
27	chr8:95564600-95567200	Active TSS	NHDF-Ad	bronchial
28	chr8:95564600-95567400	Active TSS	GM12878-XiMat	blood
29	chr8:95564800-95566600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:95564800-95566600	Active TSS	Fetal Heart	heart
31	chr8:95564800-95566600	Active TSS	Fetal Muscle Trunk	muscle
32	chr8:95564800-95566600	Active TSS	Placenta	Placenta
33	chr8:95564800-95566600	Active TSS	Hela-S3	cervix
34	chr8:95564800-95566800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:95564800-95566800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:95564800-95566800	Active TSS	Brain Substantia Nigra	brain
37	chr8:95564800-95566800	Active TSS	Left Ventricle	heart
38	chr8:95564800-95566800	Active TSS	Thymus	Thymus
39	chr8:95564800-95567000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:95564800-95567000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:95564800-95567000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr8:95564800-95567000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:95564800-95567000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:95564800-95567000	Active TSS	Brain Hippocampus Middle	brain
45	chr8:95564800-95567000	Active TSS	Esophagus	oesophagus
46	chr8:95564800-95567000	Active TSS	Ovary	ovary
47	chr8:95564800-95567000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr8:95564800-95567000	Active TSS	Psoas Muscle	Psoas
49	chr8:95564800-95567000	Active TSS	Right Ventricle	heart
50	chr8:95564800-95567000	Active TSS	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links