Variant report

Variant	rs7122541
Chromosome Location	chr11:62324876-62324877
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	MBD4	chr11:62324483-62325146	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62323158-62325041	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:62320125-62325862	PANC-1	pancreas:	n/a	n/a
4	FOXM1	chr11:62323684-62325240	GM12878	blood:	n/a	chr11:62325057-62325065
5	RELA	chr11:62324001-62325075	GM19193	blood:	n/a	n/a
6	POLR2A	chr11:62323510-62325084	HCT-116	colon:	n/a	n/a
7	RFX5	chr11:62319911-62325391	SK-N-SH	brain:	n/a	chr11:62323062-62323077 chr11:62323062-62323077 chr11:62323756-62323765 chr11:62324535-62324544 chr11:62323060-62323074 chr11:62323790-62323799 chr11:62323732-62323747 chr11:62323062-62323077 chr11:62323753-62323768
8	POLR2A	chr11:62323810-62324920	GM18951	blood:	n/a	n/a
9	SMC3	chr11:62324700-62325122	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:62323309-62325465	HUVEC	blood vessel:	n/a	n/a
11	SMARCC1	chr11:62322922-62324958	Hela-S3	cervix:	n/a	chr11:62324203-62324212 chr11:62323885-62323894 chr11:62324829-62324838
12	RUNX3	chr11:62322697-62325370	GM12878	blood:	n/a	chr11:62324827-62324836 chr11:62324827-62324836
13	POLR2A	chr11:62323514-62325385	HCT-116	colon:	n/a	n/a
14	MYC	chr11:62322994-62324948	NB4	blood:	n/a	chr11:62323907-62323917 chr11:62323063-62323072 chr11:62324170-62324177 chr11:62324170-62324179
15	POLR2A	chr11:62322805-62325091	HL-60	blood:	n/a	n/a
16	MTA3	chr11:62323474-62325206	GM12878	blood:	n/a	n/a
17	PAX5	chr11:62324718-62325139	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:62323320-62325363	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:62323543-62325033	K562	blood:	n/a	n/a
20	RELA	chr11:62322866-62325188	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr11:62323540-62325094	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr11:62323310-62325042	HUVEC	blood vessel:	n/a	n/a
23	TBL1XR1	chr11:62323917-62325168	GM12878	blood:	n/a	n/a
24	RELA	chr11:62322854-62325112	GM18951	blood:	n/a	n/a
25	POLR2A	chr11:62323618-62327355	HepG2	liver:	n/a	n/a
26	IRF4	chr11:62324316-62324992	GM12878	blood:	n/a	n/a
27	PML	chr11:62322772-62325406	GM12878	blood:	n/a	chr11:62324202-62324211 chr11:62324009-62324017
28	POLR2A	chr11:62323776-62325131	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:62324494-62324956	HepG2	liver:	n/a	n/a
30	CUX1	chr11:62324656-62325177	GM12878	blood:	n/a	n/a
31	CEBPB	chr11:62323725-62325466	GM12878	blood:	n/a	chr11:62323791-62323799
32	POLR2A	chr11:62322844-62325386	HL-60	blood:	n/a	n/a
33	FOS	chr11:62324770-62325240	MCF10A-Er-Src	breast:	n/a	chr11:62325054-62325062 chr11:62325055-62325066
34	EP300	chr11:62322860-62325228	GM12878	blood:	n/a	chr11:62323166-62323180 chr11:62324438-62324448 chr11:62325179-62325193 chr11:62324204-62324213
35	POLR2A	chr11:62323592-62324929	GM12878	blood:	n/a	n/a
36	RFX5	chr11:62322721-62325283	IMR90	lung:	n/a	chr11:62323062-62323077 chr11:62323062-62323077 chr11:62323756-62323765 chr11:62324535-62324544 chr11:62323060-62323074 chr11:62323790-62323799 chr11:62323732-62323747 chr11:62323062-62323077 chr11:62323753-62323768
37	RELA	chr11:62323828-62325300	GM18505	blood:	n/a	n/a
38	POLR2A	chr11:62323540-62324924	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:62323276-62325368	U87	brain:	n/a	n/a
40	POLR2A	chr11:62322721-62324886	Hela-S3	cervix:	n/a	n/a
41	POU2F2	chr11:62323851-62325134	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:62323728-62325139	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:62323501-62324960	GM12892	blood:	n/a	n/a
44	NFIC	chr11:62322698-62325364	GM12878	blood:	n/a	n/a
45	NFATC1	chr11:62323758-62325140	GM12878	blood:	n/a	n/a
46	STAT1	chr11:62324559-62325028	GM12878	blood:	n/a	n/a
47	RCOR1	chr11:62323685-62325139	GM12878	blood:	n/a	n/a
48	GATA3	chr11:62323093-62325069	SK-N-SH	brain:	n/a	chr11:62324205-62324214 chr11:62323943-62323953 chr11:62324889-62324898 chr11:62323456-62323464
49	BCL3	chr11:62323547-62325111	A549	lung:	n/a	chr11:62324290-62324303
50	EBF1	chr11:62324518-62324978	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62322426..62325405-chr11:62488760..62491584,2	MCF-7	breast:
2	chr11:62322357..62325242-chr11:62431867..62434268,4	K562	blood:
3	chr11:62321865..62325242-chr11:62431318..62434268,4	K562	blood:
4	chr11:62322655..62325440-chr11:62647674..62649903,2	MCF-7	breast:
5	chr11:62323620..62325305-chr11:64083434..64086391,2	MCF-7	breast:
6	chr11:62280523..62283467-chr11:62323736..62325490,2	MCF-7	breast:
7	chr11:62322974..62325879-chr11:62339928..62341595,4	MCF-7	breast:
8	chr11:62195164..62198839-chr11:62323869..62326200,3	MCF-7	breast:
9	chr11:62322393..62325605-chr11:62431937..62434272,3	MCF-7	breast:
10	chr11:62314080..62315690-chr11:62323625..62325537,2	K562	blood:
11	chr11:62322238..62325174-chr11:62431292..62434148,2	MCF-7	breast:
12	chr11:62323837..62326900-chr11:62339205..62341755,6	K562	blood:

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000255432	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000254772	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11553147	1.00[LWK][hapmap]
rs12808085	1.00[GIH][hapmap];1.00[AFR][1000 genomes]
rs2276296	1.00[LWK][hapmap]
rs3888173	0.81[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs669760	1.00[LWK][hapmap]
rs755246	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	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
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic 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	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active 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	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62316400-62325000	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr11:62318600-62325000	Enhancers	Fetal Heart	heart
3	chr11:62319000-62325000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:62319000-62326600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:62319200-62326000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:62320000-62325200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr11:62320400-62325000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:62321000-62325800	Enhancers	Fetal Intestine Large	intestine
9	chr11:62321200-62325000	Enhancers	Gastric	stomach
10	chr11:62321200-62325000	Enhancers	Psoas Muscle	Psoas
11	chr11:62321400-62325000	Weak transcription	Fetal Brain Male	brain
12	chr11:62321400-62326200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:62321600-62325000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:62321800-62325000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:62322000-62325000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:62322000-62325000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:62322000-62326400	Genic enhancers	Fetal Intestine Small	intestine
18	chr11:62322200-62325000	Flanking Active TSS	Dnd41	blood
19	chr11:62322200-62326200	Weak transcription	Aorta	Aorta
20	chr11:62322400-62325400	Flanking Active TSS	GM12878-XiMat	blood
21	chr11:62322400-62328000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:62322400-62328200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
24	chr11:62322600-62325200	Enhancers	Fetal Kidney	kidney
25	chr11:62322600-62331200	Weak transcription	Ovary	ovary
26	chr11:62322800-62325000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:62322800-62325000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:62322800-62325000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:62323000-62325000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:62323000-62325000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:62323000-62325000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr11:62323000-62325000	Transcr. at gene 5' and 3'	A549	lung
33	chr11:62323400-62325000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:62323400-62325000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:62323400-62325000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:62323600-62325000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:62323600-62325000	Genic enhancers	Right Atrium	heart
38	chr11:62323800-62325000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:62324000-62325000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:62324000-62325000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:62324000-62325000	Genic enhancers	Brain Hippocampus Middle	brain
42	chr11:62324000-62325000	Enhancers	Left Ventricle	heart
43	chr11:62324000-62325000	Enhancers	Lung	lung
44	chr11:62324000-62325000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
45	chr11:62324000-62325200	Genic enhancers	NHLF	lung
46	chr11:62324000-62325400	Enhancers	Primary B cells from cord blood	blood
47	chr11:62324000-62325600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:62324000-62325800	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:62324200-62325000	Genic enhancers	H9 Cell Line	embryonic stem cell
50	chr11:62324200-62325000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links