Variant report

Variant	rs57585081
Chromosome Location	chr1:9598175-9598176
allele	A/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	JUN	chr1:9597932-9598212	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:9597765-9598524	HepG2	liver:	n/a	chr1:9598116-9598131
3	ELF1	chr1:9597938-9598437	HepG2	liver:	n/a	n/a
4	TCF12	chr1:9597915-9598447	HepG2	liver:	n/a	chr1:9598121-9598130
5	POLR2A	chr1:9598043-9598432	HepG2	liver:	n/a	n/a
6	TEAD4	chr1:9597849-9598545	HepG2	liver:	n/a	n/a
7	RCOR1	chr1:9597940-9598346	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:9597831-9598445	HepG2	liver:	n/a	chr1:9598116-9598131
9	POLR2A	chr1:9597858-9600451	Raji	blood:	n/a	n/a
10	ELF1	chr1:9598083-9598453	K562	blood:	n/a	n/a
11	RAD21	chr1:9597934-9598332	HepG2	liver:	n/a	n/a
12	CHD2	chr1:9598092-9598431	HepG2	liver:	n/a	n/a
13	RAD21	chr1:9597861-9598281	HepG2	liver:	n/a	n/a
14	FOXA2	chr1:9597812-9598394	HepG2	liver:	n/a	n/a
15	SP1	chr1:9597791-9598471	HepG2	liver:	n/a	n/a
16	MXI1	chr1:9597944-9598381	HepG2	liver:	n/a	n/a
17	MBD4	chr1:9597855-9598430	HepG2	liver:	n/a	n/a
18	TBP	chr1:9597847-9598594	HepG2	liver:	n/a	n/a
19	HNF4G	chr1:9597892-9598440	HepG2	liver:	n/a	chr1:9598128-9598136
20	RAD21	chr1:9598065-9598362	HepG2	liver:	n/a	n/a
21	CEBPD	chr1:9597917-9598226	HepG2	liver:	n/a	n/a
22	HNF4A	chr1:9597914-9598363	HepG2	liver:	n/a	chr1:9598128-9598136
23	FOXA1	chr1:9597983-9598392	T-47D	breast:	n/a	chr1:9598116-9598131
24	MYBL2	chr1:9597789-9598651	HepG2	liver:	n/a	n/a
25	FOXA2	chr1:9597626-9598729	HepG2	liver:	n/a	n/a
26	HNF4A	chr1:9597878-9598443	HepG2	liver:	n/a	chr1:9598128-9598136
27	NFIC	chr1:9597702-9598494	HepG2	liver:	n/a	n/a
28	MYC	chr1:9597988-9598416	HepG2	liver:	n/a	n/a
29	EP300	chr1:9597873-9598387	HepG2	liver:	n/a	chr1:9598183-9598197
30	POLR2A	chr1:9597777-9601715	HepG2	liver:	n/a	n/a
31	ELF1	chr1:9597940-9598454	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:9598042-9598392	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:9597942-9598250	HepG2	liver:	n/a	chr1:9598084-9598096
34	POLR2A	chr1:9598084-9598327	HepG2	liver:	n/a	n/a
35	MAZ	chr1:9597862-9598262	HepG2	liver:	n/a	n/a
36	JUND	chr1:9598030-9598230	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:9597746-9598805	HepG2	liver:	n/a	n/a
38	HEY1	chr1:9597776-9598737	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:9597786-9599822	HepG2	liver:	n/a	n/a
40	GATA3	chr1:9598168-9598475	T-47D	breast:	n/a	n/a
41	MAX	chr1:9597937-9598350	HepG2	liver:	n/a	n/a
42	RXRA	chr1:9597905-9598390	HepG2	liver:	n/a	chr1:9598188-9598197
43	REST	chr1:9597912-9598424	HepG2	liver:	n/a	n/a
44	EP300	chr1:9597823-9598489	HepG2	liver:	n/a	chr1:9598183-9598197
45	HEY1	chr1:9597809-9598450	HepG2	liver:	n/a	n/a
46	HDAC2	chr1:9597873-9598473	HepG2	liver:	n/a	chr1:9597906-9597920 chr1:9597910-9597924
47	POLR2A	chr1:9597908-9598417	HepG2	liver:	n/a	n/a
48	MYBL2	chr1:9597694-9598675	HepG2	liver:	n/a	n/a
49	CEBPD	chr1:9598043-9598407	HepG2	liver:	n/a	n/a
50	RFX5	chr1:9597995-9598411	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9596866..9598419-chr1:9883166..9885475,2	K562	blood:
2	chr1:9597937..9599836-chr1:9648693..9652829,4	K562	blood:
3	chr1:9597781..9602686-chr1:9646599..9652829,9	K562	blood:
4	chr1:9597734..9599433-chr1:9617661..9619736,2	K562	blood:
5	chr1:9586876..9589181-chr1:9596662..9599409,2	K562	blood:
6	chr1:9350586..9353918-chr1:9597167..9600975,3	MCF-7	breast:

Variant related genes	Relation type
SLC25A33	TF binding region
ENSG00000171603	Chromatin interaction
ENSG00000171621	Chromatin interaction
ENSG00000188807	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10159413	1.00[AMR][1000 genomes]
rs11121428	1.00[EUR][1000 genomes]
rs11804156	0.83[AFR][1000 genomes]
rs11811820	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066330	1.00[EUR][1000 genomes]
rs55913306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs56133747	1.00[AMR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051506	1.00[AMR][1000 genomes]
rs74051508	1.00[AMR][1000 genomes]
rs74051509	1.00[AMR][1000 genomes]
rs74051510	1.00[AMR][1000 genomes]
rs74051513	1.00[AMR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051544	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051551	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051552	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2476310	chr1:9593578-9600139	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv3354568	chr1:9593665-9598963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3519025	chr1:9594165-9598963	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3519024	chr1:9594715-9598713	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv3519026	chr1:9594715-9598713	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv2577357	chr1:9594904-9598296	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv545377	chr1:9597237-9602962	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9587200-9598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:9591600-9598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:9591600-9599000	Weak transcription	Adipose Nuclei	Adipose
5	chr1:9591600-9599400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:9593200-9598600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:9593200-9599000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:9593400-9598400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:9593400-9598600	Weak transcription	Fetal Lung	lung
10	chr1:9593400-9598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:9593400-9598800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:9593400-9598800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:9593600-9598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:9593600-9598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:9593600-9598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:9593600-9598800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:9593600-9599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:9593600-9599000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:9593600-9599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:9593800-9599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:9594400-9599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:9594600-9599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:9596200-9599400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:9597200-9599200	Enhancers	Stomach Mucosa	stomach
25	chr1:9597800-9598200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:9597800-9598200	Enhancers	Small Intestine	intestine
27	chr1:9597800-9598400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr1:9597800-9598400	Enhancers	K562	blood
29	chr1:9597800-9598600	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr1:9597800-9598800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:9597800-9598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:9597800-9599200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:9597800-9599200	Flanking Active TSS	HepG2	liver
34	chr1:9597800-9599400	Enhancers	HMEC	breast
35	chr1:9597800-9599600	Enhancers	GM12878-XiMat	blood
36	chr1:9598000-9598200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:9598000-9598200	Enhancers	Primary hematopoietic stem cells	blood
38	chr1:9598000-9598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:9598000-9598200	Enhancers	A549	lung
40	chr1:9598000-9598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:9598000-9598400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:9598000-9598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:9598000-9598400	Active TSS	Liver	Liver
44	chr1:9598000-9598400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:9598000-9598600	Enhancers	Colonic Mucosa	Colon
46	chr1:9598000-9598600	Enhancers	Fetal Heart	heart
47	chr1:9598000-9598600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr1:9598000-9598600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:9598000-9599000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:9598000-9599000	Enhancers	HUES6 Cell Line	embryonic stem cell

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