Variant report

Variant	rs60205654
Chromosome Location	chr11:76499714-76499715
allele	C/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	EP300	chr11:76498936-76500297	MCF-7	breast:	n/a	chr11:76498979-76498993
2	POLR2A	chr11:76498272-76500991	HepG2	liver:	n/a	n/a
3	TBP	chr11:76499489-76499755	HepG2	liver:	n/a	n/a
4	ZNF143	chr11:76499425-76499730	K562	blood:	n/a	n/a
5	NFIC	chr11:76499300-76500241	ECC-1	luminal epithelium:	n/a	chr11:76500023-76500051
6	USF1	chr11:76499355-76499747	K562	blood:	n/a	n/a
7	ESR1	chr11:76499604-76500105	T-47D	breast:	n/a	n/a
8	MAX	chr11:76498722-76500332	HCT-116	colon:	n/a	chr11:76499004-76499014 chr11:76500087-76500096
9	GATA1	chr11:76499228-76499910	PBDE	blood:	n/a	chr11:76499453-76499462 chr11:76499452-76499462 chr11:76499449-76499465 chr11:76499454-76499471 chr11:76499450-76499460 chr11:76499451-76499463
10	GATA3	chr11:76499452-76500123	MCF-7	breast:	n/a	chr11:76499453-76499462 chr11:76499452-76499462 chr11:76499454-76499471
11	ESR1	chr11:76499624-76500128	T-47D	breast:	n/a	n/a
12	GATA3	chr11:76499111-76500313	MCF-7	breast:	n/a	chr11:76499453-76499462 chr11:76499452-76499462 chr11:76499449-76499465 chr11:76499454-76499471 chr11:76499450-76499460 chr11:76499451-76499463
13	GATA3	chr11:76499433-76500186	T-47D	breast:	n/a	chr11:76499453-76499462 chr11:76499452-76499462 chr11:76499449-76499465 chr11:76499454-76499471 chr11:76499450-76499460 chr11:76499451-76499463
14	GATA3	chr11:76499330-76500140	T-47D	breast:	n/a	chr11:76499453-76499462 chr11:76499452-76499462 chr11:76499449-76499465 chr11:76499454-76499471 chr11:76499450-76499460 chr11:76499451-76499463
15	HDAC2	chr11:76499298-76500308	MCF-7	breast:	n/a	n/a
16	TBP	chr11:76499353-76499741	K562	blood:	n/a	n/a
17	USF1	chr11:76499245-76500374	HCT-116	colon:	n/a	n/a
18	MYC	chr11:76498735-76500092	MCF10A-Er-Src	breast:	n/a	chr11:76499004-76499014
19	RCOR1	chr11:76499287-76499726	K562	blood:	n/a	n/a
20	SIN3AK20	chr11:76498338-76500863	MCF-7	breast:	n/a	n/a
21	MYC	chr11:76499316-76499717	K562	blood:	n/a	n/a
22	POLR2A	chr11:76498815-76499834	K562	blood:	n/a	n/a
23	USF2	chr11:76499455-76499752	K562	blood:	n/a	n/a
24	MYC	chr11:76499713-76500155	MCF-7	breast:	n/a	chr11:76500087-76500096
25	MAX	chr11:76499591-76500261	ECC-1	luminal epithelium:	n/a	chr11:76500087-76500096
26	MYC	chr11:76499284-76499757	K562	blood:	n/a	n/a
27	KAP1	chr11:76499187-76499978	U2OS	brain:	n/a	n/a
28	FOS	chr11:76499634-76500051	MCF10A-Er-Src	breast:	n/a	n/a
29	ESR1	chr11:76499702-76500101	T-47D	breast:	n/a	n/a
30	ZEB1	chr11:76498834-76500751	HepG2	liver:	n/a	chr11:76499863-76499875
31	NR2F2	chr11:76498792-76500413	MCF-7	breast:	n/a	n/a
32	TAL1	chr11:76499155-76499777	K562	blood:	n/a	chr11:76499453-76499471
33	FOS	chr11:76499672-76500016	MCF10A-Er-Src	breast:	n/a	n/a
34	CBX3	chr11:76498998-76499853	K562	blood:	n/a	n/a
35	POLR2A	chr11:76499648-76500550	Hela-S3	cervix:	n/a	n/a
36	USF1	chr11:76499355-76500240	ECC-1	luminal epithelium:	n/a	n/a
37	TEAD4	chr11:76499220-76499728	K562	blood:	n/a	n/a
38	MAX	chr11:76499290-76500255	ECC-1	luminal epithelium:	n/a	chr11:76500087-76500096
39	MAX	chr11:76491870-76500240	A549	lung:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76499004-76499014 chr11:76494703-76494719 chr11:76500087-76500096
40	NR2F2	chr11:76499178-76499755	K562	blood:	n/a	n/a
41	TCF12	chr11:76498806-76500453	MCF-7	breast:	n/a	chr11:76499211-76499221 chr11:76500203-76500211 chr11:76499346-76499356
42	CEBPB	chr11:76498741-76500149	MCF-7	breast:	n/a	chr11:76499051-76499068
43	EP300	chr11:76499471-76500270	T-47D	breast:	n/a	n/a
44	BCL3	chr11:76498341-76500112	A549	lung:	n/a	chr11:76498984-76498993 chr11:76499454-76499461
45	MYC	chr11:76499487-76500112	MCF10A-Er-Src	breast:	n/a	chr11:76500087-76500096
46	POLR2A	chr11:76499645-76500187	A549	lung:	n/a	n/a
47	FOXA1	chr11:76499589-76500122	T-47D	breast:	n/a	n/a
48	JUN	chr11:76499106-76499911	K562	blood:	n/a	n/a
49	SP1	chr11:76499057-76500340	HCT-116	colon:	n/a	n/a
50	TEAD4	chr11:76499208-76499789	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76483309..76484347-chr11:76499003..76500334,10	MCF-7	breast:
2	chr11:76464979..76468586-chr11:76498537..76501368,3	MCF-7	breast:
3	chr11:76475834..76477640-chr11:76498585..76500944,2	K562	blood:
4	chr11:76483499..76484261-chr11:76499370..76500123,3	MCF-7	breast:
5	chr11:76483309..76484347-chr11:76499003..76500464,11	MCF-7	breast:
6	chr11:76498398..76500983-chr11:76629016..76630524,2	MCF-7	breast:
7	chr11:76497872..76501557-chr11:76570027..76573455,3	K562	blood:
8	chr11:76497829..76500317-chr11:76518217..76520054,2	MCF-7	breast:
9	chr11:76499655..76502011-chr11:76503724..76505940,3	K562	blood:
10	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
11	chr11:76484600..76489060-chr11:76497459..76500806,4	K562	blood:
12	chr11:76450787..76452506-chr11:76497901..76500387,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACER3-1	chr11:76498677-76500442	NONHSAT023191

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000078124	Chromatin interaction
ENSG00000261578	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2099787	1.00[AMR][1000 genomes]
rs61212057	1.00[AMR][1000 genomes]
rs61560547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7101546	1.00[AMR][1000 genomes]
rs73501594	1.00[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	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76495400-76501800	Transcr. at gene 5' and 3'	A549	lung
2	chr11:76496000-76499800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:76496000-76500600	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:76496000-76501000	Enhancers	Right Ventricle	heart
5	chr11:76496000-76506800	Weak transcription	Aorta	Aorta
6	chr11:76496200-76499800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:76496200-76503600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
9	chr11:76496400-76500600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:76496400-76500600	Enhancers	Fetal Heart	heart
11	chr11:76496400-76501000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:76496400-76501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:76496400-76504000	Weak transcription	HSMMtube	muscle
14	chr11:76496600-76500400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:76496600-76500800	Enhancers	Pancreas	Pancrea
16	chr11:76496600-76504400	Weak transcription	HUVEC	blood vessel
17	chr11:76496600-76509800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:76496800-76500200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:76496800-76500200	Genic enhancers	Fetal Stomach	stomach
20	chr11:76496800-76500400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:76496800-76500800	Enhancers	Ovary	ovary
22	chr11:76496800-76501200	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:76496800-76501400	Enhancers	Colonic Mucosa	Colon
24	chr11:76496800-76504200	Weak transcription	HSMM	muscle
25	chr11:76496800-76507400	Enhancers	Stomach Mucosa	stomach
26	chr11:76496800-76510000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:76497200-76500000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:76497200-76500600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:76497200-76500800	Enhancers	Left Ventricle	heart
30	chr11:76497400-76501200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:76497400-76502200	Weak transcription	Brain Germinal Matrix	brain
32	chr11:76497800-76500000	Enhancers	Fetal Brain Female	brain
33	chr11:76498000-76500800	Genic enhancers	Fetal Intestine Small	intestine
34	chr11:76498000-76503200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:76498000-76504000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:76498200-76500000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:76498200-76500000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:76498200-76500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:76498200-76500200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:76498200-76500400	Enhancers	Fetal Lung	lung
41	chr11:76498200-76500400	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:76498200-76501600	Genic enhancers	K562	blood
43	chr11:76498200-76501800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:76498200-76502600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:76498400-76500000	Enhancers	Spleen	Spleen
46	chr11:76498400-76500200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:76498400-76500400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:76498400-76505800	Enhancers	Placenta	Placenta
49	chr11:76498600-76499800	Enhancers	Fetal Brain Male	brain
50	chr11:76498600-76500400	Enhancers	Gastric	stomach

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