Variant report

Variant	rs7125948
Chromosome Location	chr11:34072538-34072539
allele	C/G
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	TBP	chr11:34072470-34075318	K562	blood:	n/a	n/a
2	POLR2A	chr11:34072350-34074205	HUVEC	blood vessel:	n/a	n/a
3	TCF12	chr11:34072416-34075352	A549	lung:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
4	SP1	chr11:34072474-34074527	HCT-116	colon:	n/a	chr11:34072908-34072917 chr11:34073673-34073682 chr11:34074301-34074315 chr11:34073837-34073846 chr11:34072907-34072921 chr11:34072477-34072487 chr11:34073835-34073847 chr11:34074294-34074308 chr11:34072901-34072915 chr11:34073835-34073846 chr11:34073672-34073681 chr11:34072907-34072917 chr11:34073836-34073850 chr11:34073835-34073847
5	TBL1XR1	chr11:34072464-34073273	K562	blood:	n/a	n/a
6	IRF3	chr11:34072502-34072549	GM12878	blood:	n/a	n/a
7	SIN3A	chr11:34072415-34075452	H1-hESC	embryonic stem cell:	n/a	chr11:34073371-34073382 chr11:34073459-34073472 chr11:34075026-34075037
8	PAX5	chr11:34072369-34072929	GM12878	blood:	n/a	chr11:34072701-34072710
9	POLR2A	chr11:34072350-34075511	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:34072014-34075240	U87	brain:	n/a	n/a
11	POLR2A	chr11:34072465-34074177	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:34071825-34075659	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:34072521-34075393	K562	blood:	n/a	n/a
14	REST	chr11:34072242-34075617	H1-neurons	neurons:	n/a	chr11:34075029-34075042 chr11:34073259-34073269 chr11:34073414-34073427 chr11:34072857-34072870 chr11:34072949-34072969 chr11:34072949-34072969
15	POLR2A	chr11:34071900-34075767	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:34072352-34075460	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:34072517-34075426	GM12878	blood:	n/a	n/a
18	MXI1	chr11:34072057-34076116	SK-N-SH	brain:	n/a	n/a
19	MAZ	chr11:34072375-34076034	IMR90	lung:	n/a	chr11:34074478-34074488
20	POLR2A	chr11:34070322-34075592	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr11:34072515-34075348	PFSK-1	brain:	n/a	n/a
22	MYC	chr11:34072512-34075414	K562	blood:	n/a	chr11:34074995-34075005 chr11:34074478-34074488
23	POLR2A	chr11:34072507-34075587	K562	blood:	n/a	n/a
24	POLR2A	chr11:34072365-34075348	K562	blood:	n/a	n/a
25	MYC	chr11:34072519-34075288	NB4	blood:	n/a	chr11:34074995-34075005 chr11:34074478-34074488
26	POLR2A	chr11:34072026-34074165	U87	brain:	n/a	n/a
27	POLR2A	chr11:34072519-34075463	GM12878	blood:	n/a	n/a
28	CUX1	chr11:34072201-34072594	K562	blood:	n/a	n/a
29	MAX	chr11:34072524-34075439	HCT-116	colon:	n/a	chr11:34074995-34075005 chr11:34074478-34074488
30	POLR2A	chr11:34072483-34075299	GM19099	blood:	n/a	n/a
31	MXI1	chr11:34072475-34075662	IMR90	lung:	n/a	n/a
32	POLR2A	chr11:34072521-34074165	U87	brain:	n/a	n/a
33	POLR2A	chr11:34072198-34075546	PFSK-1	brain:	n/a	n/a
34	MTA3	chr11:34072370-34073530	GM12878	blood:	n/a	n/a
35	HCFC1	chr11:34072225-34075832	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:34072533-34074250	K562	blood:	n/a	n/a
37	POLR2A	chr11:34072078-34075483	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:34071426-34076005	K562	blood:	n/a	n/a
39	MAX	chr11:34072521-34073466	ECC-1	luminal epithelium:	n/a	n/a
40	PAX5	chr11:34072520-34072842	GM12878	blood:	n/a	chr11:34072701-34072710
41	CEBPB	chr11:34072500-34073279	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:34072534-34074238	ECC-1	luminal epithelium:	n/a	n/a
43	TAF1	chr11:34072528-34073452	GM12878	blood:	n/a	n/a
44	CHD1	chr11:34072421-34075781	IMR90	lung:	n/a	n/a
45	POLR2A	chr11:34072012-34075256	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34042157..34043774-chr11:34070520..34073015,2	MCF-7	breast:
2	chr11:34072129..34073643-chr11:34109400..34112113,2	MCF-7	breast:
3	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
4	chr1:149222363..149225341-chr11:34071940..34074204,2	MCF-7	breast:
5	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
6	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
7	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
8	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
9	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10768047	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11032507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11606854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418412	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925114	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925115	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925121	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925126	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925134	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925147	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925153	1.00[YRI][hapmap]
rs16925155	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs16925160	0.91[YRI][hapmap]
rs16925163	0.91[YRI][hapmap]
rs16925167	1.00[YRI][hapmap]
rs16925170	1.00[YRI][hapmap]
rs16925173	0.92[YRI][hapmap]
rs16925175	1.00[YRI][hapmap]
rs16925177	0.92[YRI][hapmap]
rs16925181	0.92[YRI][hapmap]
rs16925182	1.00[YRI][hapmap]
rs16925183	1.00[YRI][hapmap]
rs16925184	1.00[YRI][hapmap]
rs16926099	0.84[AFR][1000 genomes]
rs17367679	1.00[YRI][hapmap]
rs2004272	0.84[AFR][1000 genomes]
rs2421456	0.84[AFR][1000 genomes]
rs2421457	0.84[AFR][1000 genomes]
rs36117528	0.84[AFR][1000 genomes]
rs4074368	0.84[AFR][1000 genomes]
rs4237663	0.85[AFR][1000 genomes]
rs56696374	0.84[AFR][1000 genomes]
rs56973150	0.84[AFR][1000 genomes]
rs57330513	0.82[AFR][1000 genomes]
rs57636521	0.84[AFR][1000 genomes]
rs59249605	0.84[AFR][1000 genomes]
rs59650719	0.82[AFR][1000 genomes]
rs60700110	0.84[AFR][1000 genomes]
rs61171154	0.84[AFR][1000 genomes]
rs6484694	0.85[AFR][1000 genomes]
rs7102797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104352	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs7117217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117410	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73486549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497025	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73497030	0.84[AFR][1000 genomes]
rs73497050	0.84[AFR][1000 genomes]
rs73501009	0.84[AFR][1000 genomes]
rs73501017	0.84[AFR][1000 genomes]
rs73501018	0.84[AFR][1000 genomes]
rs73501023	0.84[AFR][1000 genomes]
rs7483997	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs7925202	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7951306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7951527	0.89[YRI][hapmap]
rs7951543	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8191	0.92[YRI][hapmap]
rs958332	0.92[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34066400-34072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34067200-34072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:34070600-34072600	Enhancers	Placenta	Placenta
4	chr11:34071800-34072600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:34071800-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:34071800-34072800	Flanking Active TSS	K562	blood
7	chr11:34072000-34072600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:34072000-34072600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr11:34072000-34072600	Weak transcription	Aorta	Aorta
10	chr11:34072000-34072600	Enhancers	Stomach Mucosa	stomach
11	chr11:34072000-34072600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:34072000-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:34072000-34072800	Flanking Active TSS	Dnd41	blood
14	chr11:34072200-34072600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:34072200-34072600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:34072200-34072600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:34072200-34072600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:34072200-34072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:34072200-34072600	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:34072200-34072600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:34072200-34072600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:34072200-34072800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:34072200-34072800	Flanking Active TSS	Hela-S3	cervix
27	chr11:34072200-34072800	Flanking Active TSS	HUVEC	blood vessel
28	chr11:34072200-34072800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:34072200-34072800	Flanking Active TSS	NHEK	skin
30	chr11:34072200-34073000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:34072200-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:34072400-34072600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:34072400-34072600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:34072400-34072600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:34072400-34072600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:34072400-34072600	Flanking Active TSS	Liver	Liver
39	chr11:34072400-34072600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:34072400-34072600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:34072400-34072600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr11:34072400-34072600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr11:34072400-34072600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:34072400-34072600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr11:34072400-34072600	Flanking Active TSS	Fetal Heart	heart
46	chr11:34072400-34072600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:34072400-34072600	Flanking Active TSS	Fetal Kidney	kidney
48	chr11:34072400-34072600	Active TSS	Fetal Lung	lung
49	chr11:34072400-34072600	Flanking Active TSS	Fetal Thymus	thymus
50	chr11:34072400-34072600	Flanking Active TSS	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links