Variant report

Variant	rs881930
Chromosome Location	chr11:76484241-76484242
allele	C/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	TCF12	chr11:76483233-76484385	MCF-7	breast:	n/a	chr11:76483592-76483601
2	POLR2A	chr11:76483944-76484632	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:76484182-76484373	A549	lung:	n/a	n/a
4	EP300	chr11:76483349-76484293	MCF-7	breast:	n/a	chr11:76483592-76483602
5	SIN3AK20	chr11:76483339-76484286	MCF-7	breast:	n/a	n/a
6	MAX	chr11:76478401-76484386	A549	lung:	n/a	chr11:76480952-76480961
7	NR2F2	chr11:76483166-76484359	MCF-7	breast:	n/a	n/a
8	EP300	chr11:76479517-76484254	A549	lung:	n/a	chr11:76482306-76482319 chr11:76480952-76480961 chr11:76483592-76483602 chr11:76481902-76481916
9	MAX	chr11:76483465-76484467	MCF-7	breast:	n/a	n/a
10	SP1	chr11:76480180-76484311	A549	lung:	n/a	chr11:76482603-76482612 chr11:76480707-76480719 chr11:76481685-76481695 chr11:76482249-76482263 chr11:76480708-76480717 chr11:76480709-76480718 chr11:76481685-76481695 chr11:76480707-76480719 chr11:76480859-76480873
11	TCF12	chr11:76477960-76484560	A549	lung:	n/a	chr11:76482146-76482153 chr11:76480716-76480726 chr11:76482255-76482265 chr11:76480990-76480997 chr11:76483592-76483601
12	HDAC2	chr11:76483448-76484284	MCF-7	breast:	n/a	chr11:76483592-76483601
13	GATA3	chr11:76482943-76484344	A549	lung:	n/a	chr11:76482973-76482982
14	GATA3	chr11:76483353-76484253	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76127052..76127735-chr11:76483717..76484285,2	MCF-7	breast:
2	chr11:76483699..76484259-chr11:76493642..76494348,2	MCF-7	breast:
3	chr11:76483371..76484340-chr11:76749416..76750324,13	MCF-7	breast:
4	chr11:76483283..76484346-chr11:77970896..77971764,4	MCF-7	breast:
5	chr11:76483354..76484283-chr11:76746133..76747123,10	MCF-7	breast:
6	chr11:76483419..76484340-chr11:76749623..76750323,5	MCF-7	breast:
7	chr11:76481325..76485010-chr11:76548090..76550777,4	MCF-7	breast:
8	chr11:76481811..76484372-chr11:118794835..118797008,2	MCF-7	breast:
9	chr11:76478657..76481034-chr11:76483366..76485151,2	K562	blood:
10	chr11:76483309..76484347-chr11:76499003..76500464,11	MCF-7	breast:
11	chr11:76483309..76484347-chr11:76499003..76500334,10	MCF-7	breast:
12	chr11:76483281..76484255-chr11:76730946..76731891,5	MCF-7	breast:
13	chr11:76479171..76486141-chr11:76745972..76752965,12	MCF-7	breast:
14	chr11:76483499..76484261-chr11:76499370..76500123,3	MCF-7	breast:
15	chr11:76480548..76482359-chr11:76483413..76485313,3	MCF-7	breast:
16	chr11:76483356..76484415-chr11:76746304..76746986,4	MCF-7	breast:
17	chr11:76483704..76484283-chr11:76746269..76746789,2	MCF-7	breast:
18	chr11:76446515..76448277-chr11:76483918..76485534,2	MCF-7	breast:
19	chr11:76480126..76482018-chr11:76483333..76485190,2	K562	blood:
20	chr11:76460759..76461909-chr11:76483572..76484293,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254632	TF binding region
ENSG00000110375	Chromatin interaction
ENSG00000254632	Chromatin interaction
ENSG00000198488	Chromatin interaction
ENSG00000186174	Chromatin interaction
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1149596	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1149597	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1149599	0.83[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1149605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149606	0.83[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1149609	0.84[EUR][1000 genomes]
rs1149610	0.84[EUR][1000 genomes]
rs1149615	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]
rs1149616	0.89[CEU][hapmap]
rs1149618	0.89[CEU][hapmap]
rs1224955	0.84[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1664081	0.80[CHD][hapmap];0.88[GIH][hapmap]
rs34909318	0.84[EUR][1000 genomes]
rs3740776	0.88[EUR][1000 genomes]
rs3740777	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7117275	0.82[YRI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs881930	ACER3	cis	cerebellum	SCAN
rs881930	RP11-21L23.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76474000-76485600	Enhancers	Left Ventricle	heart
2	chr11:76474400-76485400	Enhancers	Fetal Muscle Leg	muscle
3	chr11:76476200-76485600	Enhancers	Fetal Intestine Large	intestine
4	chr11:76476400-76484400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:76476400-76485200	Enhancers	Fetal Intestine Small	intestine
6	chr11:76478400-76485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:76478800-76485600	Enhancers	Placenta	Placenta
8	chr11:76480000-76485400	Enhancers	Adipose Nuclei	Adipose
9	chr11:76480200-76486200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:76480600-76485600	Enhancers	Stomach Mucosa	stomach
11	chr11:76480800-76485200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:76481000-76487800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:76481200-76485000	Enhancers	Fetal Stomach	stomach
14	chr11:76481400-76485600	Enhancers	Ovary	ovary
15	chr11:76481600-76484600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:76481800-76484400	Enhancers	Fetal Heart	heart
17	chr11:76481800-76485200	Enhancers	Spleen	Spleen
18	chr11:76482000-76485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:76482000-76485600	Enhancers	Right Atrium	heart
20	chr11:76482800-76484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:76482800-76484800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:76482800-76484800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:76482800-76485000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:76482800-76485000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:76482800-76486000	Enhancers	Liver	Liver
26	chr11:76482800-76492400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:76483000-76484400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:76483000-76485800	Enhancers	Hela-S3	cervix
29	chr11:76483200-76484600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:76483200-76484600	Weak transcription	HMEC	breast
31	chr11:76483400-76484400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:76483400-76484600	Weak transcription	NHEK	skin
33	chr11:76483400-76485600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:76483600-76484400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:76483600-76484600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:76483600-76484800	Enhancers	Small Intestine	intestine
37	chr11:76483600-76485200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:76483600-76485200	Enhancers	Gastric	stomach
39	chr11:76483600-76485600	Enhancers	Esophagus	oesophagus
40	chr11:76483600-76486000	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:76483600-76487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:76483800-76485000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:76483800-76485400	Enhancers	Right Ventricle	heart
44	chr11:76483800-76485600	Enhancers	Pancreas	Pancrea
45	chr11:76483800-76485600	Enhancers	Psoas Muscle	Psoas
46	chr11:76484000-76484400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:76484000-76484400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:76484000-76484400	Flanking Active TSS	A549	lung
49	chr11:76484000-76485200	Weak transcription	HSMMtube	muscle
50	chr11:76484000-76485400	Enhancers	Sigmoid Colon	Sigmoid Colon

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