Variant report

Variant	rs7126157
Chromosome Location	chr11:62522120-62522121
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	HEY1	chr11:62521037-62522165	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62521171-62522126	A549	lung:	n/a	n/a
3	POLR2A	chr11:62521224-62522209	MCF-7	breast:	n/a	n/a
4	TAF1	chr11:62521204-62522204	H1-neurons	neurons:	n/a	n/a
5	SP1	chr11:62521018-62522199	HCT-116	colon:	n/a	chr11:62521361-62521371 chr11:62521360-62521372 chr11:62521328-62521340 chr11:62521395-62521407 chr11:62521628-62521637 chr11:62521627-62521638 chr11:62521395-62521407 chr11:62521361-62521371 chr11:62521396-62521410 chr11:62521627-62521639 chr11:62521360-62521372 chr11:62521396-62521405 chr11:62521362-62521371 chr11:62521361-62521370 chr11:62521628-62521642 chr11:62521645-62521666 chr11:62521328-62521340 chr11:62521627-62521639
6	POLR2A	chr11:62521134-62522201	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:62521084-62522221	U87	brain:	n/a	n/a
8	POLR2A	chr11:62521253-62522151	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:62520920-62522155	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:62521128-62522198	HL-60	blood:	n/a	n/a
11	POLR2A	chr11:62521189-62522197	ProgFib	skin:	n/a	n/a
12	POLR2A	chr11:62521263-62522121	GM19193	blood:	n/a	n/a
13	PML	chr11:62521211-62522128	K562	blood:	n/a	n/a
14	NR2F2	chr11:62521343-62522158	K562	blood:	n/a	n/a
15	SIN3AK20	chr11:62521074-62522294	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:62520934-62522244	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:62521125-62522224	MCF-7	breast:	n/a	n/a
18	SRF	chr11:62521159-62522209	MCF-7	breast:	n/a	n/a
19	SP1	chr11:62521068-62522198	HCT-116	colon:	n/a	chr11:62521361-62521371 chr11:62521360-62521372 chr11:62521328-62521340 chr11:62521395-62521407 chr11:62521628-62521637 chr11:62521627-62521638 chr11:62521395-62521407 chr11:62521361-62521371 chr11:62521396-62521410 chr11:62521627-62521639 chr11:62521360-62521372 chr11:62521396-62521405 chr11:62521362-62521371 chr11:62521361-62521370 chr11:62521628-62521642 chr11:62521645-62521666 chr11:62521328-62521340 chr11:62521627-62521639
20	POLR2A	chr11:62521282-62522129	Raji	blood:	n/a	n/a
21	POLR2A	chr11:62521013-62522130	U87	brain:	n/a	n/a
22	POLR2A	chr11:62521175-62522207	H1-neurons	neurons:	n/a	n/a
23	TCF12	chr11:62520723-62522220	A549	lung:	n/a	chr11:62521546-62521554
24	TAF1	chr11:62521232-62522132	K562	blood:	n/a	n/a
25	POLR2A	chr11:62521114-62522242	HUVEC	blood vessel:	n/a	n/a
26	MTA3	chr11:62520965-62522245	GM12878	blood:	n/a	n/a
27	RCOR1	chr11:62521123-62522128	K562	blood:	n/a	n/a
28	POLR2A	chr11:62521013-62522141	U87	brain:	n/a	n/a
29	POLR2A	chr11:62521254-62522122	GM18951	blood:	n/a	n/a
30	SP1	chr11:62521111-62522121	GM12878	blood:	n/a	chr11:62521361-62521371 chr11:62521360-62521372 chr11:62521328-62521340 chr11:62521395-62521407 chr11:62521628-62521637 chr11:62521627-62521638 chr11:62521395-62521407 chr11:62521361-62521371 chr11:62521396-62521410 chr11:62521627-62521639 chr11:62521360-62521372 chr11:62521396-62521405 chr11:62521362-62521371 chr11:62521361-62521370 chr11:62521628-62521642 chr11:62521645-62521666 chr11:62521328-62521340 chr11:62521627-62521639
31	PML	chr11:62521086-62522258	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:62520985-62522440	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:62521099-62522169	PFSK-1	brain:	n/a	n/a
34	POU2F2	chr11:62521813-62522141	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:62521249-62522121	GM15510	blood:	n/a	n/a
36	HCFC1	chr11:62520881-62522280	Hela-S3	cervix:	n/a	n/a
37	MAX	chr11:62521228-62522217	ECC-1	luminal epithelium:	n/a	n/a
38	GTF3C2	chr11:62521840-62522344	Hela-S3	cervix:	n/a	n/a
39	JUND	chr11:62521291-62522174	A549	lung:	n/a	n/a
40	POLR2A	chr11:62521312-62522125	GM12878	blood:	n/a	n/a
41	TAF1	chr11:62521241-62522145	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr11:62520987-62522181	PANC-1	pancreas:	n/a	n/a
43	NFYB	chr11:62521262-62522143	GM12878	blood:	n/a	chr11:62521685-62521700
44	POLR2A	chr11:62521226-62522123	GM19099	blood:	n/a	n/a
45	MAX	chr11:62521234-62522187	ECC-1	luminal epithelium:	n/a	n/a
46	NR2F2	chr11:62521099-62522266	K562	blood:	n/a	n/a
47	REST	chr11:62521222-62522192	A549	lung:	n/a	chr11:62521325-62521345
48	SIN3AK20	chr11:62521670-62522140	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr11:62521060-62522156	K562	blood:	n/a	n/a
50	POLR2A	chr11:62521180-62522120	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62519528..62524669-chr11:62571252..62575050,10	K562	blood:
2	chr11:62518679..62523882-chr11:62607116..62611230,13	K562	blood:
3	chr11:62518863..62523305-chr11:62619900..62623516,4	K562	blood:
4	chr11:62521741..62524646-chr11:62553150..62554807,2	K562	blood:
5	chr11:62519655..62523029-chr11:62605463..62609291,6	MCF-7	breast:
6	chr11:62521299..62522288-chr7:25164407..25165001,2	NB4	blood:
7	chr11:62365249..62367009-chr11:62521402..62523143,2	K562	blood:
8	chr11:62521915..62524779-chr11:62632725..62634741,2	K562	blood:
9	chr11:62493384..62497236-chr11:62520063..62523255,11	K562	blood:
10	chr11:62521216..62523210-chr11:62647073..62650275,3	MCF-7	breast:
11	chr11:62520493..62523829-chr11:62537048..62539893,5	MCF-7	breast:
12	chr11:62520193..62523309-chr11:62537104..62540629,7	K562	blood:
13	chr11:62431935..62434701-chr11:62520844..62523074,3	K562	blood:
14	chr11:62519883..62522902-chr11:62598213..62600903,4	K562	blood:
15	chr11:62520927..62522865-chr11:62597731..62600568,2	MCF-7	breast:
16	chr11:62519922..62523309-chr11:62537231..62541263,10	K562	blood:
17	chr11:62520888..62523141-chr11:62545604..62547952,2	MCF-7	breast:
18	chr11:62492464..62497553-chr11:62519802..62523353,13	MCF-7	breast:
19	chr11:62493462..62498807-chr11:62519015..62523330,14	K562	blood:
20	chr11:62519746..62522346-chr11:62606856..62610588,7	K562	blood:
21	chr11:62519047..62523225-chr11:62570888..62574473,7	MCF-7	breast:
22	chr11:62472417..62476831-chr11:62520357..62523886,4	MCF-7	breast:
23	chr11:62521298..62522148-chr17:62223154..62223819,2	NB4	blood:
24	chr11:62518331..62523032-chr11:62553860..62556353,4	K562	blood:
25	chr11:62491539..62497784-chr11:62516835..62523459,19	MCF-7	breast:
26	chr11:62500518..62507069-chr11:62517079..62523179,7	MCF-7	breast:
27	chr11:62519528..62525971-chr11:62571539..62574867,10	K562	blood:
28	chr11:62521320..62523360-chr11:62553604..62555212,2	MCF-7	breast:
29	chr1:210546751..210547710-chr11:62521440..62522186,2	Hela-S3	cervix:
30	chr11:62520365..62524255-chr11:62526885..62533181,10	K562	blood:
31	chr11:62520275..62522946-chr11:62645985..62649381,3	K562	blood:
32	chr11:62472130..62477497-chr11:62520063..62523778,7	MCF-7	breast:
33	chr11:62520403..62522717-chr11:63579678..63581641,2	MCF-7	breast:

Variant related genes	Relation type
ZBTB3	TF binding region
ENSG00000162194	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12291596	0.92[AFR][1000 genomes]
rs528616	0.96[AFR][1000 genomes]
rs6912	0.92[AFR][1000 genomes]
rs7103034	0.96[AFR][1000 genomes]
rs7104235	0.96[AFR][1000 genomes]
rs7107423	0.92[AFR][1000 genomes]
rs7110307	0.96[AFR][1000 genomes]
rs7113951	0.96[AFR][1000 genomes]
rs7114249	0.96[AFR][1000 genomes]
rs7115869	0.96[AFR][1000 genomes]
rs7945873	1.00[AFR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' 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	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62520800-62522200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:62520800-62522200	Active TSS	HSMMtube	muscle
3	chr11:62520800-62522400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:62520800-62522400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:62520800-62522400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:62520800-62522400	Active TSS	HSMM	muscle
7	chr11:62520800-62522600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:62521000-62522200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62521000-62522200	Active TSS	Aorta	Aorta
10	chr11:62521000-62522200	Active TSS	Gastric	stomach
11	chr11:62521000-62522200	Active TSS	Ovary	ovary
12	chr11:62521000-62522200	Active TSS	Right Atrium	heart
13	chr11:62521000-62522200	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:62521000-62522200	Active TSS	NHDF-Ad	bronchial
15	chr11:62521000-62522200	Active TSS	NHLF	lung
16	chr11:62521000-62522400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:62521000-62522400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:62521000-62523200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:62521200-62522200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:62521200-62522200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:62521200-62522200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:62521200-62522200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:62521200-62522200	Active TSS	Primary hematopoietic stem cells	blood
24	chr11:62521200-62522200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:62521200-62522200	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:62521200-62522200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:62521200-62522200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:62521200-62522200	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr11:62521200-62522200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:62521200-62522200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:62521200-62522200	Active TSS	Colon Smooth Muscle	Colon
32	chr11:62521200-62522200	Active TSS	Esophagus	oesophagus
33	chr11:62521200-62522200	Active TSS	Fetal Kidney	kidney
34	chr11:62521200-62522200	Active TSS	Fetal Lung	lung
35	chr11:62521200-62522200	Active TSS	Left Ventricle	heart
36	chr11:62521200-62522200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:62521200-62522200	Active TSS	Psoas Muscle	Psoas
38	chr11:62521200-62522200	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:62521200-62522200	Active TSS	Right Ventricle	heart
40	chr11:62521200-62522200	Active TSS	HMEC	breast
41	chr11:62521200-62522200	Active TSS	HUVEC	blood vessel
42	chr11:62521200-62522200	Active TSS	NHEK	skin
43	chr11:62521200-62522200	Active TSS	Osteobl	bone
44	chr11:62521200-62522400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:62521200-62522400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:62521200-62522400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:62521200-62522400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:62521200-62522400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:62521200-62522400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:62521200-62522400	Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links