Variant report

Variant	rs11236457
Chromosome Location	chr11:75274061-75274062
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	ATF2	chr11:75273707-75274832	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr11:75272902-75274515	K562	blood:	n/a	chr11:75273249-75273263
3	TBP	chr11:75273114-75274403	K562	blood:	n/a	n/a
4	POLR2A	chr11:75272653-75274506	ECC-1	luminal epithelium:	n/a	n/a
5	HCFC1	chr11:75272911-75274521	K562	blood:	n/a	n/a
6	POLR2A	chr11:75273478-75274184	H1-neurons	neurons:	n/a	n/a
7	E2F6	chr11:75272973-75274336	K562	blood:	n/a	chr11:75273368-75273380 chr11:75273182-75273189 chr11:75274305-75274312 chr11:75274305-75274312 chr11:75273892-75273903 chr11:75274305-75274312
8	POLR2A	chr11:75272597-75274674	Hela-S3	cervix:	n/a	n/a
9	HEY1	chr11:75272869-75274101	K562	blood:	n/a	chr11:75273399-75273414
10	MAX	chr11:75273618-75274653	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELF1	chr11:75272543-75274098	GM12878	blood:	n/a	chr11:75273142-75273154
12	TAF1	chr11:75272891-75274538	K562	blood:	n/a	n/a
13	MAX	chr11:75272903-75274096	SK-N-SH	brain:	n/a	chr11:75273132-75273142
14	POLR2A	chr11:75272999-75274625	K562	blood:	n/a	n/a
15	POLR2A	chr11:75272832-75275081	Hela-S3	cervix:	n/a	n/a
16	JUND	chr11:75272719-75274606	K562	blood:	n/a	chr11:75274202-75274211 chr11:75273286-75273295
17	POLR2A	chr11:75272888-75274639	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr11:75272740-75275728	U87	brain:	n/a	n/a
19	RCOR1	chr11:75273625-75274100	HepG2	liver:	n/a	n/a
20	NFYB	chr11:75273668-75274254	Hela-S3	cervix:	n/a	chr11:75273836-75273851 chr11:75273836-75273851
21	POLR2A	chr11:75272864-75274459	GM19193	blood:	n/a	n/a
22	POLR2A	chr11:75272845-75274417	GM18526	blood:	n/a	n/a
23	STAT3	chr11:75273766-75274129	GM12878	blood:	n/a	chr11:75273897-75273909
24	POLR2A	chr11:75272700-75276641	IMR90	lung:	n/a	n/a
25	MXI1	chr11:75272923-75274463	GM12878	blood:	n/a	n/a
26	TAF1	chr11:75273465-75274648	PFSK-1	brain:	n/a	n/a
27	JUND	chr11:75273689-75274649	H1-hESC	embryonic stem cell:	n/a	chr11:75274202-75274211
28	ELF1	chr11:75273566-75274615	K562	blood:	n/a	n/a
29	MYBL2	chr11:75273083-75274539	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:75272810-75275878	HUVEC	blood vessel:	n/a	n/a
31	EBF1	chr11:75272884-75275329	GM12878	blood:	n/a	chr11:75275182-75275193
32	POLR2A	chr11:75272715-75274470	GM12892	blood:	n/a	n/a
33	ELK1	chr11:75272944-75274172	Hela-S3	cervix:	n/a	chr11:75273884-75273893 chr11:75273884-75273893
34	RELA	chr11:75272907-75274205	GM18951	blood:	n/a	n/a
35	POLR2A	chr11:75272559-75277471	K562	blood:	n/a	n/a
36	POLR2A	chr11:75272875-75274380	PANC-1	pancreas:	n/a	n/a
37	MAZ	chr11:75272651-75275552	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432 chr11:75273132-75273142 chr11:75272857-75272867
38	REST	chr11:75273907-75274590	PFSK-1	brain:	n/a	n/a
39	TAF1	chr11:75273151-75274524	MCF-7	breast:	n/a	n/a
40	ZBTB7A	chr11:75273538-75274265	K562	blood:	n/a	n/a
41	ELF1	chr11:75272916-75274372	MCF-7	breast:	n/a	chr11:75273142-75273154
42	POLR2A	chr11:75272872-75274500	K562	blood:	n/a	n/a
43	POLR2A	chr11:75272816-75274338	GM12892	blood:	n/a	n/a
44	TEAD4	chr11:75273980-75274591	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr11:75272954-75274811	HepG2	liver:	n/a	chr11:75273399-75273414
46	POLR2A	chr11:75272694-75274567	HCT-116	colon:	n/a	n/a
47	GATA3	chr11:75272893-75274110	A549	lung:	n/a	n/a
48	E2F6	chr11:75273633-75274089	A549	lung:	n/a	chr11:75273892-75273903
49	TAF7	chr11:75272863-75274711	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr11:75272984-75274614	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75273414..75274233-chr12:118498470..118499147,2	Hela-S3	cervix:
2	chr11:75273489..75274154-chr20:33103763..33104352,2	Hela-S3	cervix:
3	chr11:75273536..75274181-chr6:30034389..30035339,2	Hela-S3	cervix:
4	chr11:75273535..75274064-chr3:101568274..101568832,2	Hela-S3	cervix:
5	chr11:75136185..75138324-chr11:75272295..75274643,2	MCF-7	breast:
6	chr11:75273373..75275096-chr11:75428137..75429945,2	MCF-7	breast:
7	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
8	chr11:75109363..75113212-chr11:75271581..75274783,5	MCF-7	breast:
9	chr11:60673357..60674180-chr11:75273414..75274181,2	Hela-S3	cervix:
10	chr11:75273347..75274202-chr16:54319523..54320281,2	Hela-S3	cervix:
11	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
12	chr11:75218597..75220544-chr11:75272386..75274984,2	MCF-7	breast:
13	chr11:75273471..75274087-chr15:35279997..35280692,2	Hela-S3	cervix:
14	chr1:144533670..144534281-chr11:75273793..75274528,2	HCT-116	colon:
15	chr11:75110328..75112822-chr11:75272063..75275236,3	MCF-7	breast:
16	chr11:75168129..75170217-chr11:75271905..75274852,2	MCF-7	breast:
17	chr11:75273294..75274122-chr7:139044130..139045111,2	HCT-116	colon:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000176871	Chromatin interaction
ENSG00000110107	Chromatin interaction
ENSG00000254460	Chromatin interaction
ENSG00000198146	Chromatin interaction
ENSG00000166391	Chromatin interaction
ENSG00000125971	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000273391	Chromatin interaction
ENSG00000177508	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000146963	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000158555	Chromatin interaction
ENSG00000204619	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12275382	1.00[AFR][1000 genomes]
rs12277421	0.85[EUR][1000 genomes]
rs12283499	0.82[EUR][1000 genomes]
rs12978	0.90[AFR][1000 genomes]
rs73505003	1.00[AFR][1000 genomes]
rs73505007	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75272200-75274600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:75272400-75274800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:75272600-75274200	Active TSS	Brain Hippocampus Middle	brain
4	chr11:75272600-75274200	Flanking Active TSS	HMEC	breast
5	chr11:75272600-75274600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:75272600-75274800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:75272600-75274800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:75272600-75275200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:75272600-75275400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:75272600-75275400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:75272600-75275400	Active TSS	Ovary	ovary
12	chr11:75272600-75275600	Active TSS	Brain Anterior Caudate	brain
13	chr11:75272800-75274200	Active TSS	Stomach Mucosa	stomach
14	chr11:75272800-75274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:75272800-75274400	Active TSS	Small Intestine	intestine
16	chr11:75272800-75274600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:75272800-75274800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:75272800-75274800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:75272800-75274800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:75272800-75274800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:75272800-75274800	Active TSS	Left Ventricle	heart
22	chr11:75272800-75274800	Active TSS	Psoas Muscle	Psoas
23	chr11:75272800-75275000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:75272800-75275200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:75272800-75275400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:75272800-75275400	Active TSS	Fetal Kidney	kidney
27	chr11:75272800-75275600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:75272800-75275600	Active TSS	Aorta	Aorta
29	chr11:75272800-75275800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:75273000-75274200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr11:75273000-75274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:75273000-75274200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr11:75273000-75274200	Active TSS	Fetal Muscle Leg	muscle
34	chr11:75273000-75274200	Active TSS	Pancreas	Pancrea
35	chr11:75273000-75274200	Active TSS	Thymus	Thymus
36	chr11:75273000-75274200	Active TSS	NHLF	lung
37	chr11:75273000-75274400	Active TSS	Brain Substantia Nigra	brain
38	chr11:75273000-75274400	Active TSS	Fetal Muscle Trunk	muscle
39	chr11:75273000-75274400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:75273000-75274400	Active TSS	A549	lung
41	chr11:75273000-75274600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:75273000-75274600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:75273000-75274600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:75273000-75274600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:75273000-75274600	Active TSS	Fetal Intestine Large	intestine
46	chr11:75273000-75274600	Active TSS	Fetal Lung	lung
47	chr11:75273000-75274600	Active TSS	Fetal Stomach	stomach
48	chr11:75273000-75274600	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:75273000-75274600	Active TSS	Right Ventricle	heart
50	chr11:75273000-75274600	Active TSS	Osteobl	bone

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