Variant report

Variant	rs35858916
Chromosome Location	chr11:63950529-63950530
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63950154-63954471	SK-N-MC	brain:	n/a	n/a
2	CEBPB	chr11:63950456-63950952	K562	blood:	n/a	n/a
3	POLR2A	chr11:63950494-63950758	K562	blood:	n/a	n/a
4	CEBPB	chr11:63950525-63950900	A549	lung:	n/a	n/a
5	CEBPB	chr11:63950497-63950680	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:63950499-63950604	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:63950448-63954116	HepG2	liver:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
2	chr11:63927314..63929406-chr11:63948232..63951130,3	K562	blood:
3	chr11:63948212..63950691-chr11:64013231..64015499,3	MCF-7	breast:
4	chr11:63929784..63936274-chr11:63944807..63955078,25	K562	blood:
5	chr11:63949228..63955854-chr11:64049902..64053814,7	MCF-7	breast:
6	chr11:63923167..63927304-chr11:63949302..63952377,3	MCF-7	breast:
7	chr11:63929784..63936174-chr11:63947045..63954638,30	K562	blood:
8	chr11:63919664..63921354-chr11:63949553..63952240,2	MCF-7	breast:
9	chr11:63931311..63936745-chr11:63945647..63958123,49	MCF-7	breast:
10	chr11:63949414..63951067-chr11:64085720..64087436,2	MCF-7	breast:
11	chr11:63927314..63929406-chr11:63949302..63951130,2	K562	blood:
12	chr11:63948984..63950916-chr11:64036661..64039076,2	MCF-7	breast:
13	chr11:63949462..63951169-chr11:63959042..63961813,2	MCF-7	breast:
14	chr1:121483536..121485402-chr11:63950181..63952366,2	MCF-7	breast:
15	chr11:63949331..63950889-chr11:63992567..63995144,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACROD1-2	chr11:63950298-63953164	NONHSAT021947

No data

Variant related genes	Relation type
STIP1	TF binding region
ENSG00000002330	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000149761	Chromatin interaction
ENSG00000149743	Chromatin interaction
ENSG00000173457	Chromatin interaction
ENSG00000256940	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1058735	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1059440	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231701	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11601024	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11601577	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602181	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11603212	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11605738	0.89[AFR][1000 genomes]
rs11606544	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607007	0.93[EUR][1000 genomes]
rs11607144	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607165	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418035	0.81[EUR][1000 genomes]
rs12574258	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12575642	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12787852	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794145	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12797120	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12798333	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12802950	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001003	0.87[AFR][1000 genomes]
rs2015226	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2070765	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2154986	0.82[EUR][1000 genomes]
rs2282490	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875749	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34089806	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34113693	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34838337	0.81[EUR][1000 genomes]
rs35090903	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs35095324	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35458188	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35524387	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802933	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824854	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58632573	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6591837	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66648159	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67546972	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102327	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7111278	0.89[AFR][1000 genomes]
rs7112277	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130030	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71479474	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72918475	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72920332	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72922039	0.87[AFR][1000 genomes]
rs7478730	0.89[AFR][1000 genomes]
rs7939784	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7944061	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952318	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882146	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
11	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
13	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised 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	155 gene(s)	inside rSNPs	diseases
15	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
19	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35858916	PPP1R14B	cis	Heart Left Ventricle	GTEx
rs35858916	TRPT1	cis	Muscle Skeletal	GTEx
rs35858916	PPP1R14B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63934200-63950800	Weak transcription	Gastric	stomach
2	chr11:63943600-63951000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:63944800-63950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:63945000-63952000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:63947600-63952200	Weak transcription	Primary T cells from cord blood	blood
6	chr11:63948000-63952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:63948000-63952200	Enhancers	Pancreas	Pancrea
8	chr11:63948200-63951400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:63948200-63952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:63948600-63952200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:63948800-63952000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:63949000-63951400	Weak transcription	Small Intestine	intestine
13	chr11:63949200-63952400	Enhancers	Lung	lung
14	chr11:63949400-63950800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:63949400-63951000	Weak transcription	Brain Germinal Matrix	brain
16	chr11:63949400-63951200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:63949400-63951400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:63949400-63951400	Weak transcription	Fetal Brain Male	brain
19	chr11:63949400-63951800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr11:63949400-63951800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:63949400-63952000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:63949400-63952000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:63949400-63952000	Weak transcription	Fetal Brain Female	brain
24	chr11:63949400-63952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:63949400-63952200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:63949600-63950800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:63949600-63950800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:63949600-63950800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:63949600-63950800	Weak transcription	Dnd41	blood
30	chr11:63949600-63950800	Enhancers	GM12878-XiMat	blood
31	chr11:63949600-63951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:63949600-63951000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:63949600-63951000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:63949600-63951000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:63949600-63951000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:63949600-63951000	Weak transcription	Liver	Liver
37	chr11:63949600-63951000	Weak transcription	Brain Angular Gyrus	brain
38	chr11:63949600-63951000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:63949600-63951000	Weak transcription	Colonic Mucosa	Colon
40	chr11:63949600-63951000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:63949600-63951000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:63949600-63951000	Weak transcription	Esophagus	oesophagus
43	chr11:63949600-63951000	Weak transcription	Fetal Intestine Small	intestine
44	chr11:63949600-63951000	Weak transcription	Left Ventricle	heart
45	chr11:63949600-63951000	Weak transcription	Ovary	ovary
46	chr11:63949600-63951000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr11:63949600-63951000	Weak transcription	Right Atrium	heart
48	chr11:63949600-63951000	Weak transcription	Right Ventricle	heart
49	chr11:63949600-63951000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:63949600-63951000	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links