Variant report

Variant	rs193302307
Chromosome Location	chr8:103818406-103818407
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	SIN3AK20	chr8:103818400-103820003	SK-N-SH	brain:	n/a	n/a
2	RXRA	chr8:103818119-103820335	SK-N-SH	brain:	n/a	chr8:103818682-103818689
3	HEY1	chr8:103818360-103820243	HepG2	liver:	n/a	chr8:103819810-103819819
4	FOXA2	chr8:103818018-103819381	A549	lung:	n/a	n/a
5	NR3C1	chr8:103818253-103819412	A549	lung:	n/a	n/a
6	EP300	chr8:103818203-103820140	SK-N-SH	brain:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
7	EP300	chr8:103818190-103820206	ECC-1	luminal epithelium:	n/a	chr8:103819902-103819918 chr8:103818809-103818825
8	POLR2A	chr8:103818354-103819559	K562	blood:	n/a	n/a
9	RCOR1	chr8:103818247-103821568	K562	blood:	n/a	n/a
10	POLR2A	chr8:103818383-103820269	ProgFib	skin:	n/a	n/a
11	EP300	chr8:103818353-103819342	HepG2	liver:	n/a	chr8:103818809-103818825
12	BHLHE40	chr8:103818300-103820277	K562	blood:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
13	USF1	chr8:103818397-103818888	A549	lung:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818775-103818791
14	POLR2A	chr8:103818068-103820184	GM12892	blood:	n/a	n/a
15	JUND	chr8:103818074-103820412	A549	lung:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
16	MYC	chr8:103818244-103820107	NB4	blood:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103819611-103819618
17	POLR2A	chr8:103818339-103820143	GM15510	blood:	n/a	n/a
18	SIN3AK20	chr8:103818324-103818769	A549	lung:	n/a	n/a
19	POLR2A	chr8:103817955-103821905	PANC-1	pancreas:	n/a	n/a
20	RELA	chr8:103818264-103820066	GM19193	blood:	n/a	n/a
21	NR2F2	chr8:103818229-103820122	MCF-7	breast:	n/a	n/a
22	STAT1	chr8:103818276-103819081	K562	blood:	n/a	chr8:103818804-103818816 chr8:103818779-103818791 chr8:103818516-103818524
23	CBX3	chr8:103818119-103820123	K562	blood:	n/a	n/a
24	NFIC	chr8:103818338-103818913	GM12878	blood:	n/a	n/a
25	RELA	chr8:103818054-103820046	GM12891	blood:	n/a	n/a
26	JUND	chr8:103818288-103819480	SK-N-SH	brain:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103819102-103819113 chr8:103818780-103818789
27	FOXA1	chr8:103818317-103819287	HepG2	liver:	n/a	n/a
28	JUN	chr8:103817951-103820172	K562	blood:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103818780-103818789
29	WRNIP1	chr8:103818103-103818597	GM12878	blood:	n/a	n/a
30	TCF7L2	chr8:103818158-103821127	Hela-S3	cervix:	n/a	chr8:103820382-103820392 chr8:103818425-103818441 chr8:103820379-103820393 chr8:103820381-103820390 chr8:103820817-103820827 chr8:103818429-103818438 chr8:103820378-103820394 chr8:103820817-103820824 chr8:103820378-103820394
31	ATF3	chr8:103818179-103820135	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818873-103818886 chr8:103818636-103818644
32	USF1	chr8:103818400-103818965	SK-N-SH	brain:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818775-103818791
33	POLR2A	chr8:103818135-103818766	A549	lung:	n/a	n/a
34	POLR2A	chr8:103818305-103820224	MCF-7	breast:	n/a	n/a
35	POLR2A	chr8:103818341-103819566	HUVEC	blood vessel:	n/a	n/a
36	EGR1	chr8:103818305-103820193	ECC-1	luminal epithelium:	n/a	chr8:103818774-103818787 chr8:103818775-103818786 chr8:103819818-103819832 chr8:103818775-103818784 chr8:103818774-103818787 chr8:103818778-103818788 chr8:103818774-103818787 chr8:103818773-103818788 chr8:103818774-103818784 chr8:103818774-103818787 chr8:103818773-103818787 chr8:103818855-103818865 chr8:103819724-103819737 chr8:103818769-103818791 chr8:103818792-103818802
37	TEAD4	chr8:103818246-103820192	K562	blood:	n/a	n/a
38	STAT5A	chr8:103818317-103818754	GM12878	blood:	n/a	chr8:103818516-103818524
39	CEBPB	chr8:103818391-103819508	ECC-1	luminal epithelium:	n/a	n/a
40	TAF1	chr8:103818400-103819463	K562	blood:	n/a	n/a
41	FOXM1	chr8:103818389-103818970	GM12878	blood:	n/a	n/a
42	EGR1	chr8:103818291-103819484	ECC-1	luminal epithelium:	n/a	chr8:103818774-103818787 chr8:103818775-103818786 chr8:103818775-103818784 chr8:103818774-103818787 chr8:103818778-103818788 chr8:103818774-103818787 chr8:103818773-103818788 chr8:103818774-103818784 chr8:103818774-103818787 chr8:103818773-103818787 chr8:103818855-103818865 chr8:103818769-103818791 chr8:103818792-103818802
43	RUNX3	chr8:103818096-103820213	GM12878	blood:	n/a	chr8:103819656-103819671
44	FOXM1	chr8:103818303-103821036	ECC-1	luminal epithelium:	n/a	n/a
45	EBF1	chr8:103818283-103818848	GM12878	blood:	n/a	chr8:103818479-103818490
46	MAX	chr8:103818226-103820262	A549	lung:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103820199-103820210 chr8:103819611-103819618
47	FOXM1	chr8:103818013-103821681	MCF-7	breast:	n/a	n/a
48	PBX3	chr8:103818389-103820245	SK-N-SH	brain:	n/a	n/a
49	HEY1	chr8:103818066-103819927	K562	blood:	n/a	chr8:103819810-103819819
50	NR3C1	chr8:103818224-103820111	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
3	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
4	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
5	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
6	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
7	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
8	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
9	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
10	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
11	chr8:103669664..103670176-chr8:103818037..103818965,2	MCF-7	breast:
12	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
13	chr17:56707890..56710691-chr8:103818055..103819767,2	MCF-7	breast:
14	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
15	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
16	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
17	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
18	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
19	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
20	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
21	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
22	chr8:103666410..103667102-chr8:103817768..103818726,2	Hela-S3	cervix:
23	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
24	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
25	chr8:103665986..103666630-chr8:103818157..103818981,2	MCF-7	breast:
26	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
27	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000160447	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000100099	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000100104	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000167774	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 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	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
3	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr8:103816400-103818600	Enhancers	Small Intestine	intestine
5	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
6	chr8:103816600-103818600	Enhancers	Fetal Lung	lung
7	chr8:103816800-103818600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:103816800-103818800	Enhancers	Fetal Heart	heart
9	chr8:103816800-103818800	Enhancers	Stomach Mucosa	stomach
10	chr8:103816800-103822400	Enhancers	Spleen	Spleen
11	chr8:103817000-103818600	Enhancers	Aorta	Aorta
12	chr8:103817000-103818600	Flanking Active TSS	Osteobl	bone
13	chr8:103817000-103819200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:103817600-103818600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr8:103817600-103818800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr8:103817800-103818600	Flanking Active TSS	A549	lung
18	chr8:103818000-103818600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103818000-103818600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:103818000-103818600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:103818000-103818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:103818000-103818600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:103818000-103818600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:103818000-103818600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:103818000-103818600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr8:103818000-103818600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr8:103818000-103818600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr8:103818000-103818600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr8:103818000-103818600	Flanking Active TSS	GM12878-XiMat	blood
30	chr8:103818000-103818600	Flanking Active TSS	Hela-S3	cervix
31	chr8:103818000-103818600	Flanking Active TSS	HepG2	liver
32	chr8:103818000-103818600	Flanking Active TSS	HSMM	muscle
33	chr8:103818000-103818600	Flanking Active TSS	HUVEC	blood vessel
34	chr8:103818000-103818600	Flanking Active TSS	K562	blood
35	chr8:103818000-103818600	Flanking Active TSS	NHEK	skin
36	chr8:103818000-103818600	Flanking Active TSS	NHLF	lung
37	chr8:103818000-103818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:103818000-103818800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:103818000-103818800	Flanking Active TSS	Colonic Mucosa	Colon
40	chr8:103818000-103818800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:103818000-103818800	Flanking Active TSS	NH-A	brain
42	chr8:103818200-103818600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr8:103818200-103818600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:103818200-103818600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:103818200-103818600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:103818200-103818600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:103818200-103818600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr8:103818200-103818600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr8:103818200-103818600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:103818200-103818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links