Variant report

Variant	rs7950463
Chromosome Location	chr11:66102769-66102770
allele	A/C
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	HCFC1	chr11:66102619-66104575	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr11:66102626-66105682	SK-N-SH	brain:	n/a	chr11:66104331-66104346 chr11:66104355-66104370 chr11:66104353-66104368
3	POLR2A	chr11:66101875-66105316	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:66102730-66104638	U87	brain:	n/a	n/a
5	RCOR1	chr11:66102726-66103232	Hela-S3	cervix:	n/a	n/a
6	MAX	chr11:66102614-66104680	NB4	blood:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
7	SPI1	chr11:66102624-66103427	HL-60	blood:	n/a	chr11:66103159-66103172
8	POLR2A	chr11:66102751-66104628	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:66102615-66104833	HL-60	blood:	n/a	n/a
10	MYC	chr11:66102625-66104647	NB4	blood:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
11	POLR2A	chr11:66102592-66104760	U87	brain:	n/a	n/a
12	ZNF143	chr11:66102732-66103210	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr11:66102182-66106109	IMR90	lung:	n/a	n/a
14	EBF1	chr11:66102436-66102960	GM12878	blood:	n/a	n/a
15	MAZ	chr11:66102235-66106377	IMR90	lung:	n/a	chr11:66104147-66104162 chr11:66104331-66104340 chr11:66104151-66104160 chr11:66104359-66104368 chr11:66106166-66106175 chr11:66106165-66106176 chr11:66104355-66104364 chr11:66104294-66104303 chr11:66104295-66104304
16	RCOR1	chr11:66102436-66106057	IMR90	lung:	n/a	n/a
17	POLR2A	chr11:66102663-66104552	NB4	blood:	n/a	n/a
18	POLR2A	chr11:66102435-66104794	U87	brain:	n/a	n/a
19	MXI1	chr11:66102620-66105695	IMR90	lung:	n/a	chr11:66104331-66104346 chr11:66104355-66104370 chr11:66104353-66104368
20	TFAP2C	chr11:66102745-66104417	Hela-S3	cervix:	n/a	chr11:66104239-66104254

No.	Distal block	Cell Line	Cell type
1	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
2	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
3	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
4	chr11:66102581..66106910-chr11:66137391..66141246,5	MCF-7	breast:
5	chr11:66083086..66084913-chr11:66102353..66104167,3	MCF-7	breast:
6	chr11:66102037..66105089-chr11:66137738..66140850,8	MCF-7	breast:
7	chr11:66099391..66103232-chr11:66136865..66139271,3	K562	blood:
8	chr11:66078237..66081093-chr11:66098609..66103641,6	K562	blood:
9	chr11:66055597..66057691-chr11:66102656..66105498,2	K562	blood:

Variant related genes	Relation type
RIN1	TF binding region
ENSG00000174669	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000245156	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174851	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11537930	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1190621	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1190622	0.90[EUR][1000 genomes]
rs1190623	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1212135	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016960	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2186596	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3016311	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3016316	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3016317	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814740	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4390351	0.82[ASN][1000 genomes]
rs56240803	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57004348	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58221849	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59651473	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs948360	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv1813137	chr11:66098322-66106725	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
9	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv1850142	chr11:66099494-66105817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7950463	RIN1	cis	Whole Blood	GTEx
rs7950463	RP11-867G23.12	cis	Whole Blood	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66084600-66103200	Weak transcription	Small Intestine	intestine
2	chr11:66093200-66102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66094400-66102800	Weak transcription	Psoas Muscle	Psoas
4	chr11:66095000-66102800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:66096400-66102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:66096400-66102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:66096400-66102800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:66096400-66102800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:66096400-66102800	Weak transcription	Left Ventricle	heart
10	chr11:66096400-66102800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:66096400-66102800	Weak transcription	Right Atrium	heart
12	chr11:66096400-66103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:66096400-66103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:66096400-66104400	Weak transcription	Dnd41	blood
15	chr11:66096600-66102800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:66096600-66102800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:66096600-66102800	Weak transcription	Fetal Lung	lung
18	chr11:66096600-66103000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:66098000-66103400	Weak transcription	Aorta	Aorta
20	chr11:66098400-66102800	Weak transcription	K562	blood
21	chr11:66098400-66108800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:66099000-66102800	Strong transcription	Fetal Intestine Small	intestine
23	chr11:66099000-66103200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:66100800-66102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:66101000-66102800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:66101000-66102800	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:66101000-66102800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66101000-66103200	Transcr. at gene 5' and 3'	NHLF	lung
29	chr11:66101200-66102800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:66101200-66103200	Transcr. at gene 5' and 3'	NHEK	skin
31	chr11:66101400-66102800	Weak transcription	Brain Angular Gyrus	brain
32	chr11:66101600-66102800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:66101800-66102800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr11:66101800-66103000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:66101800-66103000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
36	chr11:66101800-66103000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr11:66101800-66103200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:66102000-66102800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:66102000-66102800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:66102000-66102800	Enhancers	Fetal Muscle Leg	muscle
41	chr11:66102000-66102800	Genic enhancers	Gastric	stomach
42	chr11:66102000-66102800	Enhancers	Pancreas	Pancrea
43	chr11:66102000-66102800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:66102000-66103000	Enhancers	Placenta	Placenta
45	chr11:66102000-66103200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:66102200-66102800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66102200-66102800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:66102200-66102800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:66102200-66102800	Enhancers	Right Ventricle	heart
50	chr11:66102200-66102800	Enhancers	Spleen	Spleen

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