Variant report

Variant	rs975017
Chromosome Location	chr7:149504207-149504208
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	CTCF	chr7:149504082-149504215	GM19238	blood:	n/a	n/a
2	CTCF	chr7:149504162-149504616	K562	blood:	n/a	chr7:149504449-149504470 chr7:149504450-149504463 chr7:149504447-149504465 chr7:149504448-149504464
3	CTCF	chr7:149503625-149504712	SK-N-SH	brain:	n/a	chr7:149504449-149504470 chr7:149504450-149504463 chr7:149504447-149504465 chr7:149504448-149504464
4	CTCF	chr7:149504070-149504728	A549	lung:	n/a	chr7:149504449-149504470 chr7:149504450-149504463 chr7:149504447-149504465 chr7:149504448-149504464
5	RAD21	chr7:149504194-149504571	MCF-7	breast:	n/a	chr7:149504448-149504467 chr7:149504449-149504463
6	SMC3	chr7:149504040-149504783	SK-N-SH	brain:	n/a	chr7:149504449-149504463
7	RAD21	chr7:149503645-149504784	SK-N-SH	brain:	n/a	chr7:149504448-149504467 chr7:149504449-149504463
8	RAD21	chr7:149504202-149504630	MCF-7	breast:	n/a	chr7:149504448-149504467 chr7:149504449-149504463
9	CTCF	chr7:149504169-149504653	MCF-7	breast:	n/a	chr7:149504449-149504470 chr7:149504450-149504463 chr7:149504447-149504465 chr7:149504448-149504464
10	CTCF	chr7:149504134-149504720	HCT-116	colon:	n/a	chr7:149504449-149504470 chr7:149504450-149504463 chr7:149504447-149504465 chr7:149504448-149504464
11	CTCF	chr7:149504060-149504210	GM06990	blood:	n/a	n/a
12	CTCF	chr7:149504100-149504250	GM12868	blood:	n/a	n/a
13	RAD21	chr7:149504188-149504598	H1-hESC	embryonic stem cell:	n/a	chr7:149504448-149504467 chr7:149504449-149504463
14	CTCF	chr7:149504077-149504236	ProgFib	skin:	n/a	n/a
15	CTCF	chr7:149504200-149504350	A549	lung:	n/a	n/a
16	ZNF263	chr7:149504017-149504594	HEK293-T-REx	kidney:	n/a	n/a
17	CTCF	chr7:149504160-149504310	GM06990	blood:	n/a	n/a
18	RAD21	chr7:149504188-149504766	HCT-116	colon:	n/a	chr7:149504448-149504467 chr7:149504449-149504463
19	RAD21	chr7:149504203-149504711	A549	lung:	n/a	chr7:149504448-149504467 chr7:149504449-149504463

No.	Distal block	Cell Line	Cell type
1	chr7:149503828..149507340-chr7:149518386..149521542,3	K562	blood:
2	chr7:149497731..149501879-chr7:149502628..149506798,7	K562	blood:
3	chr7:149471231..149473426-chr7:149502540..149505740,3	MCF-7	breast:
4	chr7:149492594..149494537-chr7:149501792..149504524,2	MCF-7	breast:
5	chr7:149495710..149497643-chr7:149503377..149505393,2	K562	blood:
6	chr7:149320226..149322233-chr7:149503864..149506678,2	K562	blood:
7	chr7:149492814..149494456-chr7:149502531..149504471,2	K562	blood:
8	chr7:149503003..149505304-chr7:149509943..149512015,2	K562	blood:
9	chr7:149503805..149505965-chr7:149519208..149521069,2	MCF-7	breast:
10	chr7:149409957..149411791-chr7:149503300..149505720,2	K562	blood:
11	chr7:149503718..149504886-chr7:149546056..149546960,4	MCF-7	breast:
12	chr7:149499623..149502288-chr7:149502769..149505265,4	K562	blood:
13	chr7:149503783..149504300-chr7:149546267..149547084,2	MCF-7	breast:
14	chr7:149503784..149507213-chr7:149507288..149510780,3	MCF-7	breast:

Variant related genes	Relation type
SSPO	TF binding region
ENSG00000133624	Chromatin interaction
ENSG00000197558	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005603	0.93[CEU][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs10250401	0.80[EUR][1000 genomes]
rs10252161	0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs10260959	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10261977	0.86[CEU][hapmap];0.82[TSI][hapmap]
rs11979187	0.93[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs12666932	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1557955	0.81[EUR][1000 genomes]
rs1557956	0.81[EUR][1000 genomes]
rs4461809	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57339339	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6953743	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7791767	0.93[CEU][hapmap];0.81[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs7795784	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs975018	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv608981	chr7:149446246-149513152	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv889403	chr7:149456359-149509981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv517242	chr7:149456359-149536214	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv889406	chr7:149458623-149522366	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv889407	chr7:149458623-149536214	Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
19	esv1820919	chr7:149459787-149532882	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	esv1816660	chr7:149462712-149529460	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv889411	chr7:149465674-149539138	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	esv1791871	chr7:149466725-149516442	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv889412	chr7:149472508-149536214	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv981607	chr7:149483488-149506591	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
26	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs975017	SNORD15B	trans	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149473800-149534800	Weak transcription	Right Atrium	heart
2	chr7:149487600-149518400	Weak transcription	Gastric	stomach
3	chr7:149488000-149506400	Weak transcription	Fetal Lung	lung
4	chr7:149489200-149507000	Weak transcription	Spleen	Spleen
5	chr7:149490600-149520200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:149490800-149514400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:149500800-149510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:149503600-149511600	Weak transcription	Fetal Stomach	stomach
9	chr7:149504200-149506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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