Variant report

Variant	rs7123433
Chromosome Location	chr11:74466475-74466476
allele	A/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	MYC	chr11:74465874-74466544	MCF10A-Er-Src	breast:	n/a	chr11:74466164-74466173 chr11:74466163-74466172
2	CEBPB	chr11:74466365-74466724	HepG2	liver:	n/a	chr11:74466543-74466554
3	JUN	chr11:74465956-74466669	Hela-S3	cervix:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172 chr11:74466540-74466553
4	TCF12	chr11:74465736-74466562	SK-N-SH	brain:	n/a	n/a
5	FOS	chr11:74465879-74466660	HUVEC	blood vessel:	n/a	chr11:74466164-74466171 chr11:74466162-74466173 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
6	CEBPB	chr11:74465540-74466821	A549	lung:	n/a	chr11:74466543-74466554
7	STAT3	chr11:74465873-74466584	MCF10A-Er-Src	breast:	n/a	chr11:74466163-74466172 chr11:74466360-74466368 chr11:74466164-74466173
8	FOSL2	chr11:74465770-74466789	A549	lung:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
9	JUND	chr11:74466007-74466701	HepG2	liver:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
10	CEBPB	chr11:74466360-74466768	H1-hESC	embryonic stem cell:	n/a	chr11:74466543-74466554
11	POLR2A	chr11:74465883-74466523	HUVEC	blood vessel:	n/a	n/a
12	CEBPB	chr11:74465671-74466737	A549	lung:	n/a	chr11:74466543-74466554
13	POLR2A	chr11:74465477-74466550	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA3	chr11:74465850-74466511	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr11:74465664-74466737	IMR90	lung:	n/a	chr11:74466543-74466554
16	JUN	chr11:74465917-74466681	HUVEC	blood vessel:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172 chr11:74466540-74466553
17	RCOR1	chr11:74465467-74466754	IMR90	lung:	n/a	n/a
18	CEBPB	chr11:74466377-74466715	K562	blood:	n/a	chr11:74466543-74466554
19	EP300	chr11:74465878-74466616	Hela-S3	cervix:	n/a	chr11:74466186-74466193 chr11:74466163-74466172 chr11:74466358-74466367 chr11:74466164-74466173
20	STAT3	chr11:74465949-74466669	MCF10A-Er-Src	breast:	n/a	chr11:74466163-74466172 chr11:74466360-74466368 chr11:74466164-74466173
21	JUN	chr11:74466079-74466680	HepG2	liver:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172 chr11:74466540-74466553
22	JUND	chr11:74465846-74466679	Hela-S3	cervix:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
23	JUND	chr11:74466421-74466869	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOSL2	chr11:74465776-74466490	SK-N-SH	brain:	n/a	chr11:74466164-74466171 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
25	STAT3	chr11:74465935-74466729	MCF10A-Er-Src	breast:	n/a	chr11:74466163-74466172 chr11:74466360-74466368 chr11:74466164-74466173
26	CHD1	chr11:74464504-74467374	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:74465664-74466754	Hela-S3	cervix:	n/a	chr11:74466543-74466554
28	FOS	chr11:74465740-74466652	MCF10A-Er-Src	breast:	n/a	chr11:74466164-74466171 chr11:74466162-74466173 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
29	FOS	chr11:74465936-74466631	MCF10A-Er-Src	breast:	n/a	chr11:74466164-74466171 chr11:74466162-74466173 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
30	FOS	chr11:74465843-74466631	MCF10A-Er-Src	breast:	n/a	chr11:74466164-74466171 chr11:74466162-74466173 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172
31	FOS	chr11:74465914-74466678	MCF10A-Er-Src	breast:	n/a	chr11:74466164-74466171 chr11:74466162-74466173 chr11:74466163-74466173 chr11:74466163-74466172 chr11:74466164-74466172

No.	Distal block	Cell Line	Cell type
1	chr11:74457724..74462703-chr11:74463031..74468958,12	K562	blood:
2	chr11:74466016..74468005-chr11:74492479..74494033,2	K562	blood:
3	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:

Variant related genes	Relation type
ENSG00000264095	TF binding region
ENSG00000166439	Chromatin interaction
ENSG00000054938	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1344979	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1549980	0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17133514	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3944290	0.91[YRI][hapmap]
rs4309180	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55757045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55773510	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56059110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57005054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103489	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106103	1.00[AMR][1000 genomes]
rs7108347	0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7109824	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111253	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7114920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7118787	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121076	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125269	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7480268	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7931098	1.00[AMR][1000 genomes]
rs7938354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	esv1840811	chr11:74452658-74488369	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74461200-74466600	Weak transcription	Right Ventricle	heart
2	chr11:74461200-74479400	Weak transcription	Spleen	Spleen
3	chr11:74461600-74466600	Weak transcription	Psoas Muscle	Psoas
4	chr11:74461600-74467000	Weak transcription	Lung	lung
5	chr11:74461600-74467600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:74461600-74473600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74461600-74474800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:74461600-74475000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:74461600-74476400	Weak transcription	Thymus	Thymus
10	chr11:74461600-74494000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:74462000-74466600	Weak transcription	Placenta	Placenta
12	chr11:74462000-74470200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:74462200-74474800	Weak transcription	Fetal Stomach	stomach
14	chr11:74462400-74479000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:74462400-74481200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:74462600-74467600	Weak transcription	Dnd41	blood
17	chr11:74462600-74473800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:74462600-74487800	Weak transcription	K562	blood
19	chr11:74462800-74473800	Weak transcription	Primary B cells from cord blood	blood
20	chr11:74463200-74466600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:74464200-74467000	Enhancers	Hela-S3	cervix
22	chr11:74464400-74466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:74464400-74467000	Enhancers	Liver	Liver
24	chr11:74464400-74467000	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:74464600-74467200	Enhancers	HMEC	breast
26	chr11:74464600-74467400	Enhancers	Colon Smooth Muscle	Colon
27	chr11:74464600-74468000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:74464600-74468000	Enhancers	Adipose Nuclei	Adipose
29	chr11:74464600-74468000	Enhancers	HepG2	liver
30	chr11:74464800-74467200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:74465000-74466600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:74465200-74466600	Weak transcription	Fetal Heart	heart
33	chr11:74465200-74467000	Enhancers	Brain Anterior Caudate	brain
34	chr11:74465200-74467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:74465200-74480600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:74465400-74466600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:74465400-74466800	Flanking Active TSS	Osteobl	bone
38	chr11:74465400-74467200	Flanking Active TSS	HUVEC	blood vessel
39	chr11:74465400-74467800	Enhancers	Brain Substantia Nigra	brain
40	chr11:74465600-74466800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:74465600-74466800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:74465600-74466800	Enhancers	Fetal Lung	lung
43	chr11:74465600-74466800	Enhancers	Right Atrium	heart
44	chr11:74465600-74467200	Enhancers	Ovary	ovary
45	chr11:74465600-74467200	Enhancers	Pancreas	Pancrea
46	chr11:74465600-74467400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:74465600-74467400	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:74465600-74467400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:74465800-74466600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:74465800-74466600	Weak transcription	Esophagus	oesophagus

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