Variant report

Variant	rs2712820
Chromosome Location	chr11:74866749-74866750
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	TEAD4	chr11:74866629-74867560	HepG2	liver:	n/a	n/a
2	MYBL2	chr11:74866587-74867557	HepG2	liver:	n/a	n/a
3	SP1	chr11:74866742-74867535	HepG2	liver:	n/a	n/a
4	NR2F2	chr11:74866680-74867712	HepG2	liver:	n/a	n/a
5	FOXA1	chr11:74866738-74867487	HepG2	liver:	n/a	n/a
6	MAX	chr11:74866598-74867648	HepG2	liver:	n/a	n/a
7	MYBL2	chr11:74866681-74867566	HepG2	liver:	n/a	n/a
8	HDAC2	chr11:74866707-74867490	HepG2	liver:	n/a	chr11:74867349-74867358

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74864381..74867462-chr11:74869783..74873226,3	MCF-7	breast:
2	chr11:74860782..74862620-chr11:74866728..74869676,2	MCF-7	breast:

Variant related genes	Relation type
SLCO2B1	TF binding region
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11236359	0.87[ASN][1000 genomes]
rs2187435	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2712805	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712807	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2712810	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712819	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712821	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851064	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2851066	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851073	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2851074	0.88[ASN][1000 genomes]
rs2851102	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2851110	0.85[ASN][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	nsv897919	chr11:74862391-74875501	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2712820	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74861200-74868400	Active TSS	Brain Hippocampus Middle	brain
2	chr11:74861600-74867200	Active TSS	Brain Cingulate Gyrus	brain
3	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
5	chr11:74864600-74866800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:74864800-74867000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:74864800-74867000	Enhancers	HepG2	liver
8	chr11:74864800-74868600	Enhancers	Pancreas	Pancrea
9	chr11:74864800-74870400	Enhancers	Fetal Intestine Large	intestine
10	chr11:74865000-74872000	Enhancers	Placenta	Placenta
11	chr11:74865400-74866800	Enhancers	Colonic Mucosa	Colon
12	chr11:74865400-74866800	Enhancers	Left Ventricle	heart
13	chr11:74865400-74867600	Enhancers	Adipose Nuclei	Adipose
14	chr11:74865400-74867600	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:74865400-74867600	Enhancers	Right Ventricle	heart
16	chr11:74865400-74868000	Enhancers	Fetal Muscle Leg	muscle
17	chr11:74865400-74868200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr11:74865400-74868200	Enhancers	Stomach Mucosa	stomach
19	chr11:74865400-74868600	Enhancers	Fetal Stomach	stomach
20	chr11:74865400-74868800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:74865400-74868800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:74866000-74866800	Weak transcription	Brain Anterior Caudate	brain
23	chr11:74866000-74867000	Enhancers	Liver	Liver
24	chr11:74866000-74867400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:74866000-74869000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:74866000-74869600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:74866200-74866800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:74866200-74867600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:74866200-74867600	Enhancers	Gastric	stomach
30	chr11:74866200-74867600	Enhancers	Lung	lung
31	chr11:74866200-74873000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:74866400-74866800	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:74866400-74866800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:74866400-74867200	Weak transcription	Ovary	ovary
35	chr11:74866400-74867200	Weak transcription	Right Atrium	heart
36	chr11:74866400-74867600	Enhancers	Stomach Smooth Muscle	stomach
37	chr11:74866400-74868000	Weak transcription	Small Intestine	intestine
38	chr11:74866400-74869400	Enhancers	Fetal Intestine Small	intestine
39	chr11:74866400-74869600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:74866400-74870000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:74866400-74871000	Weak transcription	Spleen	Spleen
42	chr11:74866400-74873000	Weak transcription	Fetal Thymus	thymus

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