Variant report

Variant	rs1194338
Chromosome Location	chr11:65261438-65261439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:65261170-65261707	A549	lung:	n/a	n/a
2	POLR2A	chr11:65261276-65261448	GM12878	blood:	n/a	n/a
3	EP300	chr11:65261321-65261690	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:65258931-65261788	U87	brain:	n/a	n/a
5	POLR2A	chr11:65261103-65261722	PFSK-1	brain:	n/a	n/a
6	FOSL2	chr11:65261199-65261771	A549	lung:	n/a	chr11:65261483-65261492
7	REST	chr11:65261296-65261680	SK-N-SH	brain:	n/a	chr11:65261624-65261634
8	MAFK	chr11:65261315-65262200	IMR90	lung:	n/a	n/a
9	POLR2A	chr11:65261319-65261660	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:65261123-65261667	HUVEC	blood vessel:	n/a	n/a
11	FOSL1	chr11:65261263-65261629	K562	blood:	n/a	chr11:65261483-65261492
12	POLR2A	chr11:65261352-65261588	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:65259157-65261803	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:65261102-65261755	PANC-1	pancreas:	n/a	n/a
15	TBL1XR1	chr11:65261252-65261530	GM12878	blood:	n/a	n/a
16	NR2F2	chr11:65260925-65261777	K562	blood:	n/a	n/a
17	HEY1	chr11:65261261-65261612	K562	blood:	n/a	n/a
18	FOS	chr11:65261285-65261735	MCF10A-Er-Src	breast:	n/a	chr11:65261483-65261492
19	MYC	chr11:65261342-65261681	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:65261287-65261634	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr11:65261417-65261626	K562	blood:	n/a	n/a
22	EP300	chr11:65261387-65261559	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:65261257-65261631	Hela-S3	cervix:	n/a	n/a
24	REST	chr11:65261307-65261689	Hela-S3	cervix:	n/a	chr11:65261624-65261634
25	POLR2A	chr11:65261344-65261656	GM19193	blood:	n/a	n/a
26	MAFF	chr11:65261433-65261562	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:65261318-65261561	A549	lung:	n/a	n/a
28	RCOR1	chr11:65261348-65261689	K562	blood:	n/a	n/a
29	SP1	chr11:65261096-65261915	HCT-116	colon:	n/a	n/a
30	POLR2A	chr11:65261389-65261505	Gliobla	brain:	n/a	n/a
31	MAX	chr11:65261251-65261655	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr11:65258997-65262469	GM12892	blood:	n/a	n/a
33	MAX	chr11:65261260-65261712	SK-N-SH	brain:	n/a	n/a
34	RELA	chr11:65260064-65261584	GM15510	blood:	n/a	n/a
35	ESR1	chr11:65261240-65261591	T-47D	breast:	n/a	n/a
36	YY1	chr11:65261318-65261603	K562	blood:	n/a	n/a
37	POLR2A	chr11:65258931-65261874	U87	brain:	n/a	n/a
38	EP300	chr11:65261162-65261674	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr11:65261185-65261753	SK-N-SH	brain:	n/a	n/a
40	MAX	chr11:65261215-65261769	ECC-1	luminal epithelium:	n/a	n/a
41	HEY1	chr11:65261177-65261578	HepG2	liver:	n/a	n/a
42	ZNF384	chr11:65261105-65261569	K562	blood:	n/a	n/a
43	JUND	chr11:65261423-65261570	H1-hESC	embryonic stem cell:	n/a	chr11:65261483-65261492
44	RXRA	chr11:65261143-65261779	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr11:65261297-65261635	A549	lung:	n/a	n/a
46	NR3C1	chr11:65261325-65261661	A549	lung:	n/a	n/a
47	NFIC	chr11:65259111-65261719	GM12878	blood:	n/a	n/a
48	USF2	chr11:65261391-65261602	Hela-S3	cervix:	n/a	n/a
49	FOSL1	chr11:65261060-65261767	HCT-116	colon:	n/a	chr11:65261483-65261492
50	POLR2A	chr11:65261355-65261536	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1152619	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1152620	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3132742	0.83[EUR][1000 genomes]
rs591291	0.84[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	chr11:65254000-65261800	Enhancers	Psoas Muscle	Psoas
10	chr11:65254000-65263800	Enhancers	Right Atrium	heart
11	chr11:65254200-65262200	Enhancers	Fetal Intestine Large	intestine
12	chr11:65254200-65264200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:65254400-65262200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:65254800-65262200	Enhancers	Spleen	Spleen
15	chr11:65254800-65264200	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:65255000-65262200	Enhancers	HUVEC	blood vessel
17	chr11:65255200-65263600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:65255400-65262000	Enhancers	Pancreas	Pancrea
19	chr11:65255800-65261600	Enhancers	Fetal Kidney	kidney
20	chr11:65255800-65262400	Enhancers	HMEC	breast
21	chr11:65255800-65263400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:65255800-65264200	Enhancers	Fetal Stomach	stomach
23	chr11:65255800-65264200	Enhancers	Stomach Mucosa	stomach
24	chr11:65256000-65261800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65256000-65262200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:65256000-65263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:65256000-65264000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:65256000-65264000	Enhancers	Fetal Muscle Trunk	muscle
29	chr11:65256000-65264000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:65256000-65265200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:65256200-65261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:65256200-65262400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:65256200-65262400	Enhancers	Brain Angular Gyrus	brain
34	chr11:65256200-65262600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:65256200-65263800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:65256200-65265200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:65256400-65262400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:65256600-65263400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:65257000-65263400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:65257200-65262400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:65257600-65261600	Flanking Active TSS	HepG2	liver
42	chr11:65257600-65262400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:65257600-65262800	Enhancers	Fetal Intestine Small	intestine
44	chr11:65257600-65263800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:65257800-65262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:65257800-65262400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:65258200-65261600	Enhancers	Esophagus	oesophagus
48	chr11:65258200-65262600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:65258400-65263200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:65258600-65262000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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