Variant report

Variant	rs12277649
Chromosome Location	chr11:33721682-33721683
allele	A/C
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	MXI1	chr11:33720823-33721891	HepG2	liver:	n/a	chr11:33721282-33721297
2	POLR2A	chr11:33721366-33723085	H1-neurons	neurons:	n/a	n/a
3	HDAC2	chr11:33721089-33721785	HepG2	liver:	n/a	n/a
4	USF2	chr11:33720990-33721710	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:33720881-33722003	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:33721096-33721788	U87	brain:	n/a	n/a
7	MYC	chr11:33720831-33721783	NB4	blood:	n/a	n/a
8	POLR2A	chr11:33721319-33721714	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
10	TBP	chr11:33720853-33721708	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:33720836-33722023	PANC-1	pancreas:	n/a	n/a
12	MAZ	chr11:33720961-33721794	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:33721261-33721767	HepG2	liver:	n/a	n/a
14	CHD2	chr11:33721172-33721860	HepG2	liver:	n/a	chr11:33721611-33721621
15	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
16	HEY1	chr11:33721033-33721825	HepG2	liver:	n/a	n/a
17	HEY1	chr11:33720917-33721925	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:33720710-33723657	HepG2	liver:	n/a	n/a
19	EP300	chr11:33720916-33721710	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:33721035-33723613	HepG2	liver:	n/a	n/a
21	SMARCB1	chr11:33721094-33722731	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr11:33721071-33721906	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:33721154-33721852	HepG2	liver:	n/a	n/a
24	EP300	chr11:33720892-33721916	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:33721095-33724992	IMR90	lung:	n/a	n/a
26	POLR2A	chr11:33720730-33723214	NB4	blood:	n/a	n/a
27	HNF4A	chr11:33721162-33722624	HepG2	liver:	n/a	chr11:33721523-33721535 chr11:33721473-33721486 chr11:33721472-33721487 chr11:33721522-33721537 chr11:33721471-33721489 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721521-33721536 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721488 chr11:33721474-33721487 chr11:33721522-33721537
28	MYBL2	chr11:33720973-33721704	HepG2	liver:	n/a	n/a
29	BRCA1	chr11:33721096-33721939	HepG2	liver:	n/a	n/a
30	MAX	chr11:33720712-33723075	NB4	blood:	n/a	chr11:33722471-33722481
31	POLR2A	chr11:33720387-33727134	HUVEC	blood vessel:	n/a	n/a
32	NFIC	chr11:33720958-33721776	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:33720456-33724621	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:33721676-33722872	A549	lung:	n/a	n/a
35	SMC3	chr11:33721140-33721690	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:33721331-33721793	MCF10A-Er-Src	breast:	n/a	n/a
37	MAFF	chr11:33721251-33721796	HepG2	liver:	n/a	n/a
38	FOSL2	chr11:33721075-33721695	HepG2	liver:	n/a	n/a
39	MAZ	chr11:33720748-33724556	IMR90	lung:	n/a	chr11:33722471-33722481
40	POLR2A	chr11:33721090-33721845	U87	brain:	n/a	n/a
41	HNF4G	chr11:33721081-33721737	HepG2	liver:	n/a	chr11:33721523-33721535 chr11:33721473-33721486 chr11:33721522-33721537 chr11:33721471-33721489 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721488 chr11:33721474-33721487 chr11:33721522-33721537
42	HNF4G	chr11:33721151-33721769	HepG2	liver:	n/a	chr11:33721523-33721535 chr11:33721473-33721486 chr11:33721522-33721537 chr11:33721471-33721489 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721486 chr11:33721473-33721488 chr11:33721473-33721488 chr11:33721474-33721487 chr11:33721522-33721537
43	POLR2A	chr11:33721635-33723125	A549	lung:	n/a	n/a
44	MYBL2	chr11:33721002-33721718	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:33720888-33722046	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:33720521-33727789	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33720959..33721744-chr18:47018091..47018871,2	NB4	blood:
2	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:
3	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
4	chr11:33720036..33722677-chr11:33824670..33827365,2	K562	blood:
5	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
6	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255202	TF binding region
ENSG00000085063	Chromatin interaction
ENSG00000265681	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000271982	Chromatin interaction
ENSG00000255169	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12272660	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294108	0.89[AFR][1000 genomes];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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33709200-33721800	Enhancers	HMEC	breast
2	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
3	chr11:33713400-33721800	Enhancers	NHEK	skin
4	chr11:33717800-33721800	Enhancers	Placenta	Placenta
5	chr11:33718000-33722200	Weak transcription	Fetal Kidney	kidney
6	chr11:33718200-33722200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:33718600-33722000	Enhancers	Pancreas	Pancrea
9	chr11:33719600-33722600	Enhancers	HUVEC	blood vessel
10	chr11:33720800-33721800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:33720800-33721800	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:33720800-33721800	Enhancers	Ovary	ovary
13	chr11:33720800-33721800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr11:33720800-33721800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:33720800-33721800	Flanking Active TSS	HepG2	liver
16	chr11:33720800-33722600	Weak transcription	Fetal Lung	lung
17	chr11:33720800-33723600	Enhancers	Spleen	Spleen
18	chr11:33721000-33721800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr11:33721000-33721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:33721000-33721800	Enhancers	Psoas Muscle	Psoas
21	chr11:33721000-33722000	Enhancers	Hela-S3	cervix
22	chr11:33721200-33721800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr11:33721200-33721800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:33721200-33721800	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr11:33721200-33721800	Enhancers	K562	blood
26	chr11:33721200-33722000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:33721200-33722200	Enhancers	Fetal Brain Male	brain
28	chr11:33721200-33722200	Enhancers	Lung	lung
29	chr11:33721400-33721800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:33721400-33721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:33721400-33721800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:33721400-33721800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr11:33721400-33721800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr11:33721400-33721800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr11:33721400-33721800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr11:33721400-33721800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:33721400-33721800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:33721400-33721800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:33721400-33721800	Enhancers	Liver	Liver
40	chr11:33721400-33721800	Enhancers	Fetal Muscle Leg	muscle
41	chr11:33721400-33722000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:33721400-33722000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:33721400-33722200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:33721400-33722200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr11:33721400-33722800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:33721400-33722800	Active TSS	Rectal Smooth Muscle	rectum
47	chr11:33721600-33721800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr11:33721600-33721800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:33721600-33721800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:33721600-33721800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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