Variant report

Variant	rs12804786
Chromosome Location	chr11:76092150-76092151
allele	G/T
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	POLR2A	chr11:76091458-76092747	Gliobla	brain:	n/a	n/a
2	POLR2A	chr11:76092005-76092516	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr11:76092024-76092543	A549	lung:	n/a	chr11:76092111-76092123 chr11:76092292-76092304 chr11:76092115-76092124 chr11:76092291-76092300 chr11:76092114-76092126 chr11:76092152-76092161 chr11:76092112-76092121
4	HEY1	chr11:76091708-76092691	HepG2	liver:	n/a	chr11:76092114-76092129 chr11:76092111-76092126
5	CTCF	chr11:76091977-76092275	K562	blood:	n/a	n/a
6	SP4	chr11:76092113-76092513	H1-hESC	embryonic stem cell:	n/a	chr11:76092231-76092242 chr11:76092218-76092229
7	ZNF143	chr11:76091212-76092713	Hela-S3	cervix:	n/a	chr11:76092165-76092180 chr11:76091675-76091685 chr11:76091907-76091925
8	MAX	chr11:76092128-76092624	A549	lung:	n/a	n/a
9	EGR1	chr11:76092030-76092504	ECC-1	luminal epithelium:	n/a	chr11:76092153-76092167 chr11:76092427-76092436 chr11:76092212-76092226 chr11:76092290-76092301 chr11:76092289-76092302 chr11:76092285-76092307 chr11:76092215-76092228 chr11:76092363-76092372
10	JUND	chr11:76092051-76092293	H1-hESC	embryonic stem cell:	n/a	chr11:76092137-76092146
11	PBX3	chr11:76092002-76092606	A549	lung:	n/a	n/a
12	RAD21	chr11:76092044-76092316	SK-N-SH_RA	brain:	n/a	n/a
13	ETS1	chr11:76091957-76092369	K562	blood:	n/a	chr11:76092115-76092126 chr11:76092112-76092123 chr11:76092289-76092300
14	MAZ	chr11:76090859-76093234	IMR90	lung:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
15	CTCF	chr11:76091973-76092274	GM19239	blood:	n/a	n/a
16	POLR2A	chr11:76091614-76092524	A549	lung:	n/a	n/a
17	CTCF	chr11:76092060-76092210	GM12874	blood:	n/a	n/a
18	POLR2A	chr11:76091168-76092689	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr11:76091271-76092521	K562	blood:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
20	TAF1	chr11:76091900-76092703	A549	lung:	n/a	n/a
21	CTCF	chr11:76092060-76092210	GM12866	blood:	n/a	n/a
22	EBF1	chr11:76092018-76092527	GM12878	blood:	n/a	n/a
23	CTCF	chr11:76092040-76092190	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr11:76091434-76092669	A549	lung:	n/a	n/a
25	POLR2A	chr11:76091494-76092699	MCF-7	breast:	n/a	n/a
26	CREB1	chr11:76091483-76092738	A549	lung:	n/a	n/a
27	POLR2A	chr11:76091991-76092797	H1-neurons	neurons:	n/a	n/a
28	CTCF	chr11:76092020-76092170	HBMEC	blood vessel:	n/a	n/a
29	TCF7L2	chr11:76092136-76092551	PANC-1	pancreas:	n/a	n/a
30	SIN3AK20	chr11:76092106-76092627	K562	blood:	n/a	n/a
31	CTCF	chr11:76092060-76092210	GM06990	blood:	n/a	n/a
32	POLR2A	chr11:76091322-76092702	GM12892	blood:	n/a	n/a
33	CTCF	chr11:76092040-76092190	AG09319	gingival:	n/a	n/a
34	CTCF	chr11:76092028-76092190	LNCaP	prostate:	n/a	n/a
35	CHD2	chr11:76091154-76092616	Hela-S3	cervix:	n/a	chr11:76092132-76092142
36	CTCF	chr11:76092060-76092210	GM12869	blood:	n/a	n/a
37	REST	chr11:76092013-76092309	SK-N-SH	brain:	n/a	chr11:76092047-76092060
38	MAZ	chr11:76091498-76092511	HepG2	liver:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
39	CTCF	chr11:76092005-76092240	A549	lung:	n/a	n/a
40	CTCF	chr11:76092020-76092170	NHDF-neo	bronchial:	n/a	n/a
41	EP300	chr11:76092009-76092600	GM12878	blood:	n/a	chr11:76092116-76092125 chr11:76092113-76092122 chr11:76092048-76092064
42	GABPA	chr11:76091965-76092555	MCF-7	breast:	n/a	chr11:76092362-76092376 chr11:76092362-76092373 chr11:76092359-76092373 chr11:76092311-76092325 chr11:76092364-76092373 chr11:76092362-76092371 chr11:76092321-76092335
43	SIX5	chr11:76092005-76092298	GM12878	blood:	n/a	n/a
44	TCF7L2	chr11:76092007-76092533	HCT-116	colon:	n/a	n/a
45	TAF1	chr11:76091955-76092233	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:76091303-76092720	K562	blood:	n/a	n/a
47	BRCA1	chr11:76092070-76092692	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:76091991-76092233	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:76091751-76092671	HepG2	liver:	n/a	n/a
50	CTCF	chr11:76092004-76092203	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76079303..76082514-chr11:76090617..76092781,5	K562	blood:
2	chr11:76089990..76094695-chr11:76100568..76104844,7	MCF-7	breast:
3	chr11:75919700..75922037-chr11:76092044..76093720,2	MCF-7	breast:
4	chr1:70686774..70687532-chr11:76091229..76092168,2	HCT-116	colon:
5	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
6	chr11:76090234..76093573-chr11:76154824..76158196,8	MCF-7	breast:
7	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
8	chr11:76091642..76092465-chr11:76155561..76156248,2	Hela-S3	cervix:
9	chr11:76071533..76073218-chr11:76090981..76092790,2	K562	blood:
10	chr11:76091836..76092375-chr5:137514081..137514947,2	Hela-S3	cervix:
11	chr11:76092137..76092838-chr3:9834644..9835181,2	NB4	blood:
12	chr11:76091181..76093702-chr11:76114020..76116665,2	K562	blood:

Variant related genes	Relation type
ENSG00000179240	TF binding region
PRKRIR	TF binding region
ENSG00000241553	Chromatin interaction
ENSG00000085741	Chromatin interaction
ENSG00000271757	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000250151	Chromatin interaction
ENSG00000171148	Chromatin interaction
ENSG00000112983	Chromatin interaction
ENSG00000255135	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000137492	Chromatin interaction
ENSG00000272301	Chromatin interaction
ENSG00000201756	Chromatin interaction
ENSG00000112984	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440498	chr11:76090729-76093277	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr11:76090200-76093400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:76090400-76092800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:76090400-76093000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:76090600-76092600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:76090600-76092600	Active TSS	HSMM	muscle
6	chr11:76090600-76093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:76090600-76093000	Active TSS	Pancreas	Pancrea
8	chr11:76090600-76093400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:76090600-76093400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:76090600-76093400	Active TSS	Lung	lung
11	chr11:76090800-76092400	Active TSS	HMEC	breast
12	chr11:76090800-76092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:76090800-76092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:76090800-76092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:76090800-76092800	Active TSS	NHLF	lung
16	chr11:76090800-76093000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:76090800-76093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:76090800-76093000	Active TSS	Right Ventricle	heart
19	chr11:76090800-76093000	Active TSS	NHDF-Ad	bronchial
20	chr11:76090800-76093200	Active TSS	Fetal Muscle Trunk	muscle
21	chr11:76090800-76093400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:76090800-76093400	Active TSS	A549	lung
23	chr11:76091000-76092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:76091000-76092800	Active TSS	Esophagus	oesophagus
25	chr11:76091000-76092800	Active TSS	Gastric	stomach
26	chr11:76091000-76092800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr11:76091000-76093000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:76091000-76093000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:76091000-76093000	Active TSS	Aorta	Aorta
30	chr11:76091000-76093200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:76091000-76093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:76091000-76093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:76091200-76092400	Active TSS	Dnd41	blood
34	chr11:76091200-76092400	Active TSS	GM12878-XiMat	blood
35	chr11:76091200-76092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:76091200-76092600	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:76091200-76092600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:76091200-76092600	Active TSS	Fetal Lung	lung
39	chr11:76091200-76092600	Active TSS	Small Intestine	intestine
40	chr11:76091200-76092600	Active TSS	Hela-S3	cervix
41	chr11:76091200-76092600	Active TSS	HSMMtube	muscle
42	chr11:76091200-76092600	Active TSS	NH-A	brain
43	chr11:76091200-76092600	Active TSS	NHEK	skin
44	chr11:76091200-76092600	Active TSS	Osteobl	bone
45	chr11:76091200-76092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:76091200-76092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:76091200-76092800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:76091200-76092800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:76091200-76092800	Active TSS	Brain Anterior Caudate	brain
50	chr11:76091200-76092800	Active TSS	Brain Hippocampus Middle	brain

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