Variant report

Variant	rs11227341
Chromosome Location	chr11:65668164-65668165
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	REST	chr11:65667552-65668309	PANC-1	pancreas:	n/a	chr11:65668172-65668185
2	MAX	chr11:65667768-65668372	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF1	chr11:65667831-65668278	K562	blood:	n/a	chr11:65668093-65668107
4	CEBPB	chr11:65667916-65668246	IMR90	lung:	n/a	n/a
5	MAX	chr11:65666386-65668519	HCT-116	colon:	n/a	chr11:65666924-65666935 chr11:65666925-65666935 chr11:65667391-65667400
6	MYC	chr11:65666680-65668220	NB4	blood:	n/a	chr11:65666924-65666935 chr11:65666925-65666935 chr11:65667391-65667400
7	CREB1	chr11:65667762-65668436	ECC-1	luminal epithelium:	n/a	n/a
8	E2F6	chr11:65667839-65668534	H1-hESC	embryonic stem cell:	n/a	chr11:65668086-65668095
9	TCF12	chr11:65666442-65668484	A549	lung:	n/a	chr11:65667262-65667272
10	RAD21	chr11:65667736-65668256	ECC-1	luminal epithelium:	n/a	chr11:65667811-65667825 chr11:65668131-65668144
11	ELF1	chr11:65667661-65668225	K562	blood:	n/a	chr11:65668190-65668202
12	ZBTB33	chr11:65667695-65668275	HCT-116	colon:	n/a	n/a
13	SIN3AK20	chr11:65667736-65668251	HepG2	liver:	n/a	n/a
14	SPI1	chr11:65668002-65668224	GM12891	blood:	n/a	n/a
15	NR2F2	chr11:65667687-65668505	K562	blood:	n/a	n/a
16	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
17	EP300	chr11:65667706-65668374	ECC-1	luminal epithelium:	n/a	chr11:65668186-65668202 chr11:65668132-65668148
18	SP1	chr11:65667778-65668249	HepG2	liver:	n/a	chr11:65667927-65667939 chr11:65668190-65668199 chr11:65668086-65668095 chr11:65667964-65667976 chr11:65668084-65668095 chr11:65668084-65668096 chr11:65668190-65668200 chr11:65668189-65668201 chr11:65667927-65667939 chr11:65668190-65668199 chr11:65668085-65668094 chr11:65668189-65668201 chr11:65667928-65667938 chr11:65667928-65667937 chr11:65667924-65667938 chr11:65668084-65668096 chr11:65668191-65668200
19	SIN3AK20	chr11:65667563-65668285	SK-N-SH	brain:	n/a	n/a
20	CREB1	chr11:65667670-65668431	HepG2	liver:	n/a	n/a
21	EP300	chr11:65667753-65668187	K562	blood:	n/a	chr11:65668132-65668148
22	ZEB1	chr11:65668017-65668239	GM12878	blood:	n/a	n/a
23	ZEB1	chr11:65667701-65668509	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr11:65667665-65668287	PANC-1	pancreas:	n/a	n/a
25	SRF	chr11:65667847-65668308	GM12878	blood:	n/a	chr11:65668106-65668121 chr11:65668086-65668096 chr11:65668104-65668119 chr11:65668105-65668119 chr11:65668103-65668121 chr11:65668105-65668122
26	TEAD4	chr11:65667797-65668419	ECC-1	luminal epithelium:	n/a	n/a
27	FOS	chr11:65667680-65668239	MCF10A-Er-Src	breast:	n/a	chr11:65667853-65667861 chr11:65668087-65668096 chr11:65667851-65667863 chr11:65667851-65667862
28	CREB1	chr11:65667587-65668334	A549	lung:	n/a	n/a
29	SRF	chr11:65667598-65668612	MCF-7	breast:	n/a	chr11:65668106-65668121 chr11:65668086-65668096 chr11:65668104-65668119 chr11:65668105-65668119 chr11:65668103-65668121 chr11:65668105-65668122
30	SREBP1	chr11:65667398-65668459	GM12878	blood:	n/a	n/a
31	PBX3	chr11:65667729-65668396	A549	lung:	n/a	n/a
32	POLR2A	chr11:65664847-65668390	Hela-S3	cervix:	n/a	n/a
33	E2F6	chr11:65668033-65668265	K562	blood:	n/a	chr11:65668086-65668095
34	CEBPB	chr11:65667981-65668177	HepG2	liver:	n/a	n/a
35	MAX	chr11:65666517-65668376	K562	blood:	n/a	chr11:65666924-65666935 chr11:65666925-65666935 chr11:65667391-65667400
36	FOS	chr11:65667659-65668218	HUVEC	blood vessel:	n/a	chr11:65667853-65667861 chr11:65668087-65668096 chr11:65667851-65667863 chr11:65667851-65667862
37	ELF1	chr11:65667601-65668282	GM12878	blood:	n/a	chr11:65668190-65668202
38	EP300	chr11:65667570-65668566	ECC-1	luminal epithelium:	n/a	chr11:65668186-65668202 chr11:65668132-65668148
39	BHLHE40	chr11:65667751-65668314	GM12878	blood:	n/a	n/a
40	IRF1	chr11:65667743-65668328	K562	blood:	n/a	chr11:65668082-65668096 chr11:65668187-65668201 chr11:65667962-65667976
41	ZBTB7A	chr11:65666599-65668189	ECC-1	luminal epithelium:	n/a	chr11:65667377-65667388 chr11:65667397-65667404 chr11:65667376-65667387
42	SIN3AK20	chr11:65666488-65668395	HCT-116	colon:	n/a	n/a
43	YY1	chr11:65667390-65668207	K562	blood:	n/a	chr11:65667588-65667599
44	ELF1	chr11:65667955-65668344	HepG2	liver:	n/a	chr11:65668190-65668202
45	SRF	chr11:65667626-65668540	ECC-1	luminal epithelium:	n/a	chr11:65668106-65668121 chr11:65668086-65668096 chr11:65668104-65668119 chr11:65668105-65668119 chr11:65668103-65668121 chr11:65668105-65668122
46	HCFC1	chr11:65666491-65669183	Hela-S3	cervix:	n/a	n/a
47	SRF	chr11:65667874-65668372	H1-hESC	embryonic stem cell:	n/a	chr11:65668106-65668121 chr11:65668086-65668096 chr11:65668104-65668119 chr11:65668105-65668119 chr11:65668103-65668121 chr11:65668105-65668122
48	MAFK	chr11:65667843-65668230	Hela-S3	cervix:	n/a	n/a
49	NFIC	chr11:65667867-65668387	GM12878	blood:	n/a	n/a
50	JUND	chr11:65667680-65668290	H1-hESC	embryonic stem cell:	n/a	chr11:65667853-65667861 chr11:65668087-65668096 chr11:65667851-65667863 chr11:65667851-65667862

No.	Distal block	Cell Line	Cell type
1	chr11:65546756..65549287-chr11:65665686..65670324,5	K562	blood:
2	chr11:65381231..65384129-chr11:65666512..65668944,3	K562	blood:
3	chr11:65546164..65550034-chr11:65665205..65668429,3	MCF-7	breast:
4	chr11:65666218..65668935-chr11:65825625..65827818,2	K562	blood:
5	chr11:65666594..65669601-chr11:65818513..65821111,3	K562	blood:
6	chr11:65666389..65668880-chr11:66033377..66036542,3	K562	blood:
7	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
8	chr11:65381788..65384683-chr11:65666301..65668827,4	K562	blood:
9	chr11:65667671..65668334-chr6:26020656..26021303,2	Hela-S3	cervix:
10	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
11	chr11:65188738..65191479-chr11:65666779..65669038,2	K562	blood:
12	chr11:65339875..65342450-chr11:65666434..65669137,3	K562	blood:
13	chr11:65622512..65626950-chr11:65664131..65668520,8	MCF-7	breast:
14	chr11:65630101..65632052-chr11:65668031..65671023,2	MCF-7	breast:
15	chr11:65667872..65669981-chr11:65728331..65730041,2	MCF-7	breast:
16	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
17	chr11:65263558..65266439-chr11:65666909..65668740,3	K562	blood:

Variant related genes	Relation type
FOSL1	TF binding region
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000238752	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227337	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825885	1.00[AMR][1000 genomes]
rs12288911	1.00[AMR][1000 genomes]
rs12289280	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' 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	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv39194	chr11:65665530-65672457	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65664800-65668200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:65665400-65668200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:65665400-65668200	Active TSS	A549	lung
4	chr11:65665400-65668200	Active TSS	HSMMtube	muscle
5	chr11:65665400-65668600	Active TSS	NH-A	brain
6	chr11:65666000-65668200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:65666000-65668400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65666000-65668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:65666000-65668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:65666200-65668200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:65666200-65668400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:65666200-65668400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:65666200-65668400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:65666200-65668400	Active TSS	HSMM	muscle
15	chr11:65666400-65668200	Active TSS	Brain Substantia Nigra	brain
16	chr11:65666400-65668200	Flanking Bivalent TSS/Enh	Dnd41	blood
17	chr11:65666400-65668200	Active TSS	HUVEC	blood vessel
18	chr11:65666400-65668400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:65666400-65668400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65666400-65668400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:65666400-65668400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr11:65666400-65668400	Active TSS	Osteobl	bone
23	chr11:65666400-65668600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:65666600-65668200	Active TSS	Left Ventricle	heart
25	chr11:65666600-65668200	Active TSS	Hela-S3	cervix
26	chr11:65666600-65668200	Active TSS	HMEC	breast
27	chr11:65666600-65668200	Active TSS	K562	blood
28	chr11:65666600-65668200	Active TSS	NHEK	skin
29	chr11:65666600-65668200	Active TSS	NHLF	lung
30	chr11:65666600-65668400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:65666600-65668400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:65666600-65668400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr11:65666600-65668400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:65666600-65668400	Flanking Active TSS	Right Ventricle	heart
35	chr11:65666800-65668200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:65666800-65668200	Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:65666800-65668200	Flanking Active TSS	Spleen	Spleen
38	chr11:65666800-65668400	Active TSS	Right Atrium	heart
39	chr11:65667000-65668400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:65667000-65668400	Active TSS	Brain Angular Gyrus	brain
41	chr11:65667000-65668400	Active TSS	Colon Smooth Muscle	Colon
42	chr11:65667000-65668600	Bivalent Enhancer	Fetal Brain Male	brain
43	chr11:65667200-65668200	Active TSS	HepG2	liver
44	chr11:65667200-65668400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr11:65667200-65668600	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr11:65667400-65668200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:65667400-65668200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr11:65667400-65668200	Active TSS	Small Intestine	intestine
49	chr11:65667400-65668400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:65667400-65668400	Active TSS	Psoas Muscle	Psoas

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