Variant report

Variant	rs6593010
Chromosome Location	chr7:50629888-50629889
allele	A/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	RAD21	chr7:50629819-50630046	K562	blood:	n/a	n/a
2	RAD21	chr7:50629812-50630143	HepG2	liver:	n/a	n/a
3	CTCF	chr7:50629859-50630138	H1-hESC	embryonic stem cell:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
4	POLR2A	chr7:50629558-50630295	HepG2	liver:	n/a	n/a
5	MAX	chr7:50629777-50630288	HepG2	liver:	n/a	chr7:50630010-50630020
6	RAD21	chr7:50629814-50630127	HepG2	liver:	n/a	n/a
7	CTCF	chr7:50629813-50630148	K562	blood:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
8	CTCF	chr7:50629880-50630030	HUVEC	blood vessel:	n/a	chr7:50629972-50629985 chr7:50629996-50630004
9	MAX	chr7:50629794-50630234	H1-hESC	embryonic stem cell:	n/a	chr7:50630010-50630020
10	MXI1	chr7:50624122-50630583	SK-N-SH	brain:	n/a	n/a
11	USF1	chr7:50629858-50630062	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr7:50629753-50630188	SK-N-SH_RA	brain:	n/a	chr7:50630171-50630184
13	CTCF	chr7:50629840-50629990	HRE	kidney:	n/a	chr7:50629972-50629985
14	MYC	chr7:50629828-50630132	K562	blood:	n/a	chr7:50630010-50630020
15	ZNF143	chr7:50629847-50630150	H1-hESC	embryonic stem cell:	n/a	chr7:50629986-50630004
16	RAD21	chr7:50625784-50630691	SK-N-SH	brain:	n/a	chr7:50629522-50629536 chr7:50627827-50627837 chr7:50630171-50630184 chr7:50628902-50628912
17	MAX	chr7:50629817-50630157	K562	blood:	n/a	chr7:50630010-50630020
18	USF1	chr7:50629881-50630102	HepG2	liver:	n/a	n/a
19	RAD21	chr7:50629786-50630265	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
20	RAD21	chr7:50629783-50630197	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
21	MAX	chr7:50629780-50630234	H1-hESC	embryonic stem cell:	n/a	chr7:50630010-50630020
22	RAD21	chr7:50629779-50630193	H1-hESC	embryonic stem cell:	n/a	chr7:50630171-50630184
23	MYC	chr7:50629852-50630178	K562	blood:	n/a	chr7:50630010-50630020
24	MXI1	chr7:50629806-50630244	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10229102	0.86[EUR][1000 genomes]
rs10229369	0.86[EUR][1000 genomes]
rs10247443	0.86[EUR][1000 genomes]
rs10250513	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10274172	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10278338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238214	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11238226	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11489734	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11489736	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11974297	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11977415	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12665904	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12669770	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1451373	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1451374	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1451375	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1813214	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1839740	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1966839	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs1987859	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329340	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2329341	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2329342	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs3829897	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4275187	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4392851	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452748	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs4469404	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4512339	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4601266	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55718635	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55738142	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56233242	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59086818	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68143668	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6949897	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs6969081	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs73125288	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125290	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797131	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7802148	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921450	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs921451	0.81[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6593010	FIGNL1	cis	lung	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
3	chr7:50620800-50635600	Weak transcription	Lung	lung
4	chr7:50624600-50631800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:50626800-50631800	Weak transcription	Gastric	stomach
6	chr7:50626800-50632000	Weak transcription	Stomach Mucosa	stomach
7	chr7:50627800-50631600	Enhancers	Liver	Liver
8	chr7:50628200-50630400	Enhancers	Pancreas	Pancrea
9	chr7:50628600-50630000	Enhancers	Fetal Intestine Large	intestine
10	chr7:50628600-50630200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:50628600-50630400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:50628600-50632000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:50628800-50630400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:50629200-50630000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:50629200-50632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:50629400-50630800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr7:50629600-50630000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:50629600-50630400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50629600-50630800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr7:50629800-50630000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:50629800-50630200	Enhancers	Spleen	Spleen
22	chr7:50629800-50630400	Flanking Active TSS	HepG2	liver

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