Variant report

Variant	rs1194339
Chromosome Location	chr11:65261962-65261963
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	SP1	chr11:65261932-65262424	GM12878	blood:	n/a	n/a
2	MAFK	chr11:65261315-65262200	IMR90	lung:	n/a	n/a
3	FOXM1	chr11:65261796-65262576	GM12878	blood:	n/a	n/a
4	YY1	chr11:65261870-65262263	GM12892	blood:	n/a	n/a
5	NFIC	chr11:65261813-65262484	GM12878	blood:	n/a	n/a
6	PML	chr11:65261961-65262193	GM12878	blood:	n/a	n/a
7	BCLAF1	chr11:65261856-65262446	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65258997-65262469	GM12892	blood:	n/a	n/a
9	EP300	chr11:65261928-65262381	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr11:65261959-65262417	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65261913-65262364	GM12891	blood:	n/a	n/a
12	RELA	chr11:65261955-65262480	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:65261810-65262257	GM12878	blood:	n/a	n/a
14	YY1	chr11:65261877-65262343	GM12878	blood:	n/a	n/a
15	POU2F2	chr11:65261860-65262262	GM12891	blood:	n/a	n/a
16	MEF2A	chr11:65261888-65262460	SK-N-SH	brain:	n/a	chr11:65262158-65262179 chr11:65262158-65262179 chr11:65262398-65262413 chr11:65262159-65262174 chr11:65262160-65262174 chr11:65262159-65262175 chr11:65262158-65262179 chr11:65262161-65262172 chr11:65262162-65262173 chr11:65262163-65262172 chr11:65262160-65262175
17	POLR2A	chr11:65258934-65262484	GM12892	blood:	n/a	n/a
18	RELA	chr11:65261932-65262391	GM12891	blood:	n/a	n/a
19	STAT3	chr11:65261284-65262325	MCF10A-Er-Src	breast:	n/a	chr11:65261491-65261503
20	RELA	chr11:65261960-65262393	GM10847	blood:	n/a	n/a
21	PML	chr11:65261803-65262703	GM12878	blood:	n/a	n/a
22	NFATC1	chr11:65261851-65262484	GM12878	blood:	n/a	n/a
23	POU2F2	chr11:65261787-65262822	GM12878	blood:	n/a	n/a
24	STAT5A	chr11:65261921-65262562	GM12878	blood:	n/a	n/a
25	YY1	chr11:65261890-65262201	GM12892	blood:	n/a	n/a
26	NFIC	chr11:65261783-65262636	GM12878	blood:	n/a	n/a
27	RUNX3	chr11:65261878-65262417	GM12878	blood:	n/a	n/a
28	MEF2A	chr11:65261801-65262523	GM12878	blood:	n/a	chr11:65262158-65262179 chr11:65262158-65262179 chr11:65262398-65262413 chr11:65262159-65262174 chr11:65262160-65262174 chr11:65262159-65262175 chr11:65262158-65262179 chr11:65262161-65262172 chr11:65262162-65262173 chr11:65262163-65262172 chr11:65262160-65262175
29	MEF2A	chr11:65261952-65262411	K562	blood:	n/a	chr11:65262158-65262179 chr11:65262158-65262179 chr11:65262159-65262174 chr11:65262160-65262174 chr11:65262159-65262175 chr11:65262158-65262179 chr11:65262161-65262172 chr11:65262162-65262173 chr11:65262163-65262172 chr11:65262160-65262175
30	IKZF1	chr11:65261942-65262461	GM12878	blood:	n/a	n/a
31	ATF2	chr11:65261866-65262470	GM12878	blood:	n/a	n/a
32	MAX	chr11:65261901-65262225	Hela-S3	cervix:	n/a	n/a
33	STAT3	chr11:65261150-65262342	MCF10A-Er-Src	breast:	n/a	chr11:65261491-65261503
34	RELA	chr11:65261934-65262408	GM19193	blood:	n/a	n/a
35	POLR2A	chr11:65261923-65262252	U87	brain:	n/a	n/a
36	TAF1	chr11:65261952-65262330	GM12878	blood:	n/a	n/a
37	STAT3	chr11:65260095-65262373	MCF10A-Er-Src	breast:	n/a	chr11:65260910-65260918 chr11:65261491-65261503
38	STAT5A	chr11:65261876-65262487	GM12878	blood:	n/a	n/a
39	STAT3	chr11:65261284-65262336	MCF10A-Er-Src	breast:	n/a	chr11:65261491-65261503
40	MEF2C	chr11:65261804-65262512	GM12878	blood:	n/a	chr11:65262158-65262179 chr11:65262158-65262179 chr11:65262398-65262413 chr11:65262160-65262174 chr11:65262159-65262175 chr11:65262158-65262179 chr11:65262161-65262172 chr11:65262160-65262175 chr11:65262162-65262173 chr11:65262163-65262172 chr11:65262160-65262175
41	NFATC1	chr11:65261942-65262444	GM12878	blood:	n/a	n/a
42	SP1	chr11:65261962-65262406	GM12878	blood:	n/a	n/a
43	RUNX3	chr11:65261857-65262806	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:65258456-65262423	Hela-S3	cervix:	n/a	n/a
45	PAX5	chr11:65261888-65262455	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:65261852-65262329	GM12891	blood:	n/a	n/a
47	BATF	chr11:65261946-65262384	GM12878	blood:	n/a	chr11:65262299-65262308
48	TCF7L2	chr11:65261251-65262155	Hela-S3	cervix:	n/a	n/a
49	FOS	chr11:65261293-65262412	MCF10A-Er-Src	breast:	n/a	chr11:65261483-65261492
50	YY1	chr11:65261877-65262218	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
3	chr11:65261343..65264179-chr11:65354610..65357170,2	K562	blood:

Variant related genes	Relation type
MALAT1	TF binding region
ENSG00000162241	Chromatin interaction
ENSG00000255478	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000126391	Chromatin interaction
ENSG00000173825	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1152621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1152622	1.00[AMR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194336	0.83[AMR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
3	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
4	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
5	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
6	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
7	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
8	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
9	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
10	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
11	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
12	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
13	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers 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	949 gene(s)	inside rSNPs	diseases
14	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
15	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
17	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
18	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
19	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 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	chr11:65252400-65262400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:65252800-65262200	Enhancers	Liver	Liver
3	chr11:65252800-65262400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:65252800-65264400	Enhancers	Placenta	Placenta
5	chr11:65252800-65265200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:65253200-65263800	Enhancers	Fetal Thymus	thymus
7	chr11:65253200-65264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:65253400-65264400	Enhancers	Left Ventricle	heart
9	chr11:65254000-65263800	Enhancers	Right Atrium	heart
10	chr11:65254200-65262200	Enhancers	Fetal Intestine Large	intestine
11	chr11:65254200-65264200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:65254400-65262200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:65254800-65262200	Enhancers	Spleen	Spleen
14	chr11:65254800-65264200	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:65255000-65262200	Enhancers	HUVEC	blood vessel
16	chr11:65255200-65263600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:65255400-65262000	Enhancers	Pancreas	Pancrea
18	chr11:65255800-65262400	Enhancers	HMEC	breast
19	chr11:65255800-65263400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:65255800-65264200	Enhancers	Fetal Stomach	stomach
21	chr11:65255800-65264200	Enhancers	Stomach Mucosa	stomach
22	chr11:65256000-65262200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:65256000-65263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:65256000-65264000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:65256000-65264000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:65256000-65264000	Enhancers	Fetal Muscle Leg	muscle
27	chr11:65256000-65265200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:65256200-65262400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:65256200-65262400	Enhancers	Brain Angular Gyrus	brain
30	chr11:65256200-65262600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:65256200-65263800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:65256200-65265200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:65256400-65262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:65256600-65263400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:65257000-65263400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:65257200-65262400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:65257600-65262400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:65257600-65262800	Enhancers	Fetal Intestine Small	intestine
39	chr11:65257600-65263800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:65257800-65262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:65257800-65262400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:65258200-65262600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr11:65258400-65263200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:65258600-65262000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:65258600-65262400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:65258600-65262400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr11:65258600-65262400	Flanking Active TSS	Hela-S3	cervix
48	chr11:65258800-65262200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:65258800-65262200	Flanking Active TSS	A549	lung
50	chr11:65258800-65262400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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