Variant report

Variant	rs34740438
Chromosome Location	chr11:18415330-18415331
allele	A/C
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	chr11:18415324-18418072	Hela-S3	cervix:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
2	MAX	chr11:18415270-18416936	A549	lung:	n/a	chr11:18415924-18415931 chr11:18415923-18415932
3	SP1	chr11:18415328-18416523	A549	lung:	n/a	n/a
4	MAX	chr11:18415310-18418283	HCT-116	colon:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
5	MTA3	chr11:18415294-18418275	GM12878	blood:	n/a	n/a
6	NR2F2	chr11:18415274-18416347	K562	blood:	n/a	n/a
7	E2F6	chr11:18415270-18417024	H1-hESC	embryonic stem cell:	n/a	chr11:18416059-18416068 chr11:18416087-18416102 chr11:18416057-18416066 chr11:18416089-18416101
8	MXI1	chr11:18415244-18418587	SK-N-SH	brain:	n/a	chr11:18416022-18416031
9	POLR2A	chr11:18415225-18418697	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:18415270-18432749	U87	brain:	n/a	n/a
11	MXI1	chr11:18415112-18418258	IMR90	lung:	n/a	chr11:18416022-18416031
12	POLR2A	chr11:18415311-18418225	K562	blood:	n/a	n/a
13	POLR2A	chr11:18415235-18418314	HUVEC	blood vessel:	n/a	n/a
14	E2F6	chr11:18415241-18415392	K562	blood:	n/a	n/a
15	CHD1	chr11:18415224-18419079	IMR90	lung:	n/a	n/a
16	MAX	chr11:18415233-18418355	A549	lung:	n/a	chr11:18417082-18417092 chr11:18415924-18415931 chr11:18415923-18415932
17	POLR2A	chr11:18415312-18424472	HepG2	liver:	n/a	n/a
18	E2F6	chr11:18415312-18416704	A549	lung:	n/a	chr11:18416059-18416068 chr11:18416087-18416102 chr11:18416057-18416066 chr11:18416089-18416101
19	TCF12	chr11:18415299-18418380	A549	lung:	n/a	chr11:18417343-18417353 chr11:18416683-18416693
20	MAZ	chr11:18415322-18416575	IMR90	lung:	n/a	chr11:18415924-18415931 chr11:18415923-18415932
21	NR3C1	chr11:18415288-18416380	A549	lung:	n/a	chr11:18415673-18415680 chr11:18415559-18415568 chr11:18415670-18415679 chr11:18415558-18415567
22	FOSL2	chr11:18415325-18416582	A549	lung:	n/a	chr11:18415558-18415568 chr11:18416049-18416058 chr11:18415558-18415568 chr11:18415855-18415866 chr11:18415559-18415567 chr11:18415558-18415568 chr11:18416045-18416054 chr11:18415558-18415568 chr11:18416058-18416067
23	EP300	chr11:18415286-18418445	SK-N-SH	brain:	n/a	chr11:18416686-18416702
24	JUN	chr11:18415221-18417086	K562	blood:	n/a	chr11:18415558-18415568 chr11:18416049-18416058 chr11:18415558-18415568 chr11:18415855-18415866 chr11:18415559-18415567 chr11:18415558-18415568 chr11:18416045-18416054 chr11:18415558-18415568 chr11:18416058-18416067
25	POLR2A	chr11:18415305-18415380	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18414624..18416918-chr7:148786242..148788890,2	MCF-7	breast:
2	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
3	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
4	chr11:18365375..18369096-chr11:18414733..18417585,5	MCF-7	breast:
5	chr1:117908068..117910617-chr11:18415187..18418094,2	MCF-7	breast:
6	chr11:18415280..18417349-chr11:18656133..18657834,2	MCF-7	breast:
7	chr11:18414231..18417142-chr11:18548434..18550099,2	K562	blood:
8	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:
9	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
10	chr11:18414619..18417567-chr11:18475840..18478644,2	K562	blood:
11	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

Variant related genes	Relation type
LDHA	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000166800	Chromatin interaction
ENSG00000197362	Chromatin interaction
ENSG00000256006	Chromatin interaction
ENSG00000271427	Chromatin interaction
ENSG00000198162	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12289603	1.00[ASN][1000 genomes]
rs16935432	1.00[ASN][1000 genomes]
rs1848048	1.00[ASN][1000 genomes]
rs1848049	0.93[ASN][1000 genomes]
rs2056781	1.00[ASN][1000 genomes]
rs2056783	0.96[ASN][1000 genomes]
rs2896526	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35292478	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35593189	1.00[ASN][1000 genomes]
rs3740713	1.00[ASN][1000 genomes]
rs61736803	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73434674	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436638	1.00[ASN][1000 genomes]
rs73436642	1.00[ASN][1000 genomes]
rs73436645	1.00[ASN][1000 genomes]
rs73436650	1.00[ASN][1000 genomes]
rs73436655	1.00[ASN][1000 genomes]
rs73436662	1.00[ASN][1000 genomes]
rs73438686	1.00[ASN][1000 genomes]
rs73438687	1.00[ASN][1000 genomes]
rs73438690	1.00[ASN][1000 genomes]
rs73438695	0.96[ASN][1000 genomes]
rs73438697	1.00[ASN][1000 genomes]
rs73438699	1.00[ASN][1000 genomes]
rs73440604	1.00[ASN][1000 genomes]
rs73440606	1.00[ASN][1000 genomes]
rs73440610	1.00[ASN][1000 genomes]
rs73440614	1.00[ASN][1000 genomes]
rs73440615	1.00[ASN][1000 genomes]
rs73440625	1.00[ASN][1000 genomes]
rs73440634	1.00[ASN][1000 genomes]
rs73440636	1.00[ASN][1000 genomes]
rs73440637	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers 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	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers 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	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18405800-18415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:18406400-18415400	Weak transcription	Right Ventricle	heart
3	chr11:18406600-18415400	Weak transcription	Thymus	Thymus
4	chr11:18407000-18415400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:18407200-18415400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:18407200-18415400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:18407200-18415400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:18407200-18415400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:18407200-18416000	Weak transcription	Gastric	stomach
10	chr11:18407800-18415400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:18408800-18415400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:18412800-18415400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:18412800-18415800	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:18413000-18415400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:18413000-18415400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:18413000-18415400	Enhancers	HMEC	breast
17	chr11:18413000-18415400	Enhancers	NHDF-Ad	bronchial
18	chr11:18413000-18415600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:18413000-18415600	Enhancers	NHEK	skin
20	chr11:18413000-18415800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:18413000-18415800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:18413400-18415400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:18413400-18415400	Enhancers	K562	blood
24	chr11:18413400-18415400	Enhancers	Osteobl	bone
25	chr11:18413400-18415600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:18413400-18415600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:18413400-18415600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:18413400-18416000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:18413600-18415400	Enhancers	Primary T cells from cord blood	blood
30	chr11:18413600-18415400	Enhancers	HepG2	liver
31	chr11:18413800-18415400	Enhancers	GM12878-XiMat	blood
32	chr11:18413800-18415600	Enhancers	Fetal Thymus	thymus
33	chr11:18414000-18415400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:18414000-18415400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:18414000-18415400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:18414000-18415400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:18414000-18415400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:18414000-18415400	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:18414000-18415600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:18414000-18415600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:18414000-18415600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr11:18414000-18415600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:18414200-18415400	Weak transcription	Esophagus	oesophagus
44	chr11:18414200-18415400	Weak transcription	Fetal Intestine Small	intestine
45	chr11:18414400-18415400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:18414400-18415400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:18414600-18415400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:18414600-18415600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:18414600-18415600	Enhancers	Primary B cells from cord blood	blood
50	chr11:18414800-18415400	Enhancers	Dnd41	blood

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