Variant report

Variant	rs3814712
Chromosome Location	chr11:76092407-76092408
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	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	USF2	chr11:76092350-76092870	Hela-S3	cervix:	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	PBX3	chr11:76092002-76092606	A549	lung:	n/a	n/a
11	MAZ	chr11:76090859-76093234	IMR90	lung:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
12	POLR2A	chr11:76091614-76092524	A549	lung:	n/a	n/a
13	STAT5A	chr11:76092320-76092746	GM12878	blood:	n/a	chr11:76092674-76092697 chr11:76092674-76092682
14	POLR2A	chr11:76091168-76092689	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr11:76091271-76092521	K562	blood:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
16	TAF1	chr11:76091900-76092703	A549	lung:	n/a	n/a
17	EBF1	chr11:76092018-76092527	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:76091434-76092669	A549	lung:	n/a	n/a
19	POLR2A	chr11:76091494-76092699	MCF-7	breast:	n/a	n/a
20	CREB1	chr11:76091483-76092738	A549	lung:	n/a	n/a
21	POLR2A	chr11:76091991-76092797	H1-neurons	neurons:	n/a	n/a
22	TCF7L2	chr11:76092136-76092551	PANC-1	pancreas:	n/a	n/a
23	SIN3AK20	chr11:76092106-76092627	K562	blood:	n/a	n/a
24	POLR2A	chr11:76091322-76092702	GM12892	blood:	n/a	n/a
25	CHD2	chr11:76091154-76092616	Hela-S3	cervix:	n/a	chr11:76092132-76092142
26	MAZ	chr11:76091498-76092511	HepG2	liver:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
27	EP300	chr11:76092009-76092600	GM12878	blood:	n/a	chr11:76092116-76092125 chr11:76092113-76092122 chr11:76092048-76092064
28	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
29	TCF7L2	chr11:76092007-76092533	HCT-116	colon:	n/a	n/a
30	POLR2A	chr11:76091303-76092720	K562	blood:	n/a	n/a
31	BRCA1	chr11:76092070-76092692	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr11:76092233-76092704	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr11:76091751-76092671	HepG2	liver:	n/a	n/a
34	E2F6	chr11:76091224-76092688	K562	blood:	n/a	chr11:76091916-76091925 chr11:76092133-76092145 chr11:76092363-76092372 chr11:76092116-76092126 chr11:76091524-76091533 chr11:76092310-76092319 chr11:76092113-76092123 chr11:76091727-76091737
35	UBTF	chr11:76091266-76092627	K562	blood:	n/a	n/a
36	CEBPB	chr11:76092302-76092682	IMR90	lung:	n/a	n/a
37	RCOR1	chr11:76091975-76092721	K562	blood:	n/a	n/a
38	CEBPB	chr11:76092033-76092784	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:76091931-76092681	HUVEC	blood vessel:	n/a	n/a
40	EP300	chr11:76092085-76092590	HepG2	liver:	n/a	chr11:76092116-76092125 chr11:76092113-76092122
41	PAX5	chr11:76092016-76092495	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:76091715-76092631	K562	blood:	n/a	n/a
43	MAX	chr11:76091982-76092671	H1-hESC	embryonic stem cell:	n/a	n/a
44	RCOR1	chr11:76092047-76092636	GM12878	blood:	n/a	n/a
45	TCF12	chr11:76091972-76092664	ECC-1	luminal epithelium:	n/a	n/a
46	TFAP2A	chr11:76091716-76092548	Hela-S3	cervix:	n/a	chr11:76092185-76092193 chr11:76092185-76092193 chr11:76092185-76092193 chr11:76092184-76092195
47	POLR2A	chr11:76091417-76092804	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF2F1	chr11:76092107-76092946	Hela-S3	cervix:	n/a	n/a
49	MAX	chr11:76091123-76092791	Hela-S3	cervix:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
50	FOSL1	chr11:76092024-76092536	H1-hESC	embryonic stem cell:	n/a	chr11:76092137-76092146

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	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
5	chr11:76090234..76093573-chr11:76154824..76158196,8	MCF-7	breast:
6	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
7	chr11:76091642..76092465-chr11:76155561..76156248,2	Hela-S3	cervix:
8	chr11:76071533..76073218-chr11:76090981..76092790,2	K562	blood:
9	chr11:76092137..76092838-chr3:9834644..9835181,2	NB4	blood:
10	chr11:76091181..76093702-chr11:76114020..76116665,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-111M22.2.1-1	chr11:76092357-76092418	NONHSAT023165

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11236724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12270671	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12271264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12272118	0.88[EUR][1000 genomes]
rs12291710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12573970	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575838	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576140	0.80[AMR][1000 genomes]
rs12576436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12577750	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12577885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134820	1.00[CEU][hapmap]
rs2156714	0.80[AMR][1000 genomes]
rs59406877	0.88[EUR][1000 genomes]
rs59877552	0.88[EUR][1000 genomes]
rs61685496	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7102664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112778	0.80[AMR][1000 genomes]
rs7112895	0.80[AMR][1000 genomes]
rs7125625	1.00[CEU][hapmap]
rs7127263	0.80[AMR][1000 genomes]

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	chr11:76090800-76092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:76090800-76092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:76090800-76092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:76090800-76092800	Active TSS	NHLF	lung
15	chr11:76090800-76093000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:76090800-76093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:76090800-76093000	Active TSS	Right Ventricle	heart
18	chr11:76090800-76093000	Active TSS	NHDF-Ad	bronchial
19	chr11:76090800-76093200	Active TSS	Fetal Muscle Trunk	muscle
20	chr11:76090800-76093400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:76090800-76093400	Active TSS	A549	lung
22	chr11:76091000-76092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:76091000-76092800	Active TSS	Esophagus	oesophagus
24	chr11:76091000-76092800	Active TSS	Gastric	stomach
25	chr11:76091000-76092800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr11:76091000-76093000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:76091000-76093000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:76091000-76093000	Active TSS	Aorta	Aorta
29	chr11:76091000-76093200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:76091000-76093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:76091000-76093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:76091200-76092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:76091200-76092600	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr11:76091200-76092600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr11:76091200-76092600	Active TSS	Fetal Lung	lung
36	chr11:76091200-76092600	Active TSS	Small Intestine	intestine
37	chr11:76091200-76092600	Active TSS	Hela-S3	cervix
38	chr11:76091200-76092600	Active TSS	HSMMtube	muscle
39	chr11:76091200-76092600	Active TSS	NH-A	brain
40	chr11:76091200-76092600	Active TSS	NHEK	skin
41	chr11:76091200-76092600	Active TSS	Osteobl	bone
42	chr11:76091200-76092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:76091200-76092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:76091200-76092800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:76091200-76092800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:76091200-76092800	Active TSS	Brain Anterior Caudate	brain
47	chr11:76091200-76092800	Active TSS	Brain Hippocampus Middle	brain
48	chr11:76091200-76092800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr11:76091200-76092800	Active TSS	Fetal Intestine Small	intestine
50	chr11:76091200-76092800	Active TSS	Stomach Mucosa	stomach

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