Variant report

Variant	rs881217
Chromosome Location	chr11:74875945-74875946
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	MYBL2	chr11:74875506-74876303	HepG2	liver:	n/a	n/a
2	TEAD4	chr11:74875830-74876277	HepG2	liver:	n/a	n/a
3	EP300	chr11:74875795-74876252	HepG2	liver:	n/a	chr11:74876028-74876041
4	NFIC	chr11:74875789-74876244	HepG2	liver:	n/a	n/a
5	HNF4A	chr11:74875448-74876311	HepG2	liver:	n/a	chr11:74875663-74875675 chr11:74875662-74875677 chr11:74876173-74876188 chr11:74875662-74875677 chr11:74875663-74875676 chr11:74875662-74875677
6	MAZ	chr11:74875516-74876143	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr11:74875921-74876161	HepG2	liver:	n/a	n/a
8	FOXA2	chr11:74875878-74876239	HepG2	liver:	n/a	n/a
9	HEY1	chr11:74875795-74876152	HepG2	liver:	n/a	chr11:74876131-74876140
10	RXRA	chr11:74875873-74876268	HepG2	liver:	n/a	chr11:74876050-74876059
11	HNF4A	chr11:74875449-74876230	HepG2	liver:	n/a	chr11:74875663-74875675 chr11:74875662-74875677 chr11:74876173-74876188 chr11:74875662-74875677 chr11:74875663-74875676 chr11:74875662-74875677
12	EP300	chr11:74875662-74876128	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
13	HNF4A	chr11:74875499-74876313	HepG2	liver:	n/a	chr11:74875663-74875675 chr11:74875662-74875677 chr11:74876173-74876188 chr11:74875662-74875677 chr11:74875663-74875676 chr11:74875662-74875677
14	HDAC2	chr11:74875413-74876261	HepG2	liver:	n/a	chr11:74876181-74876189
15	POLR2A	chr11:74875508-74876169	HepG2	liver:	n/a	n/a
16	NFIC	chr11:74875450-74876259	HepG2	liver:	n/a	n/a
17	YY1	chr11:74875808-74876223	HepG2	liver:	n/a	n/a
18	RCOR1	chr11:74875901-74876195	HepG2	liver:	n/a	n/a
19	EP300	chr11:74875353-74876317	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
20	MBD4	chr11:74875450-74876254	HepG2	liver:	n/a	n/a
21	CHD2	chr11:74875267-74876070	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:74875846-74876151	HepG2	liver:	n/a	n/a
23	HDAC2	chr11:74875576-74876292	HepG2	liver:	n/a	chr11:74876181-74876189
24	HNF4G	chr11:74875425-74876274	HepG2	liver:	n/a	chr11:74875663-74875675 chr11:74875662-74875677 chr11:74876173-74876188 chr11:74875662-74875677 chr11:74875663-74875676 chr11:74875865-74875880 chr11:74875662-74875677
25	MYBL2	chr11:74875380-74876288	HepG2	liver:	n/a	n/a
26	SP1	chr11:74875381-74876275	HepG2	liver:	n/a	chr11:74875404-74875414

No.	Distal block	Cell Line	Cell type
1	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
2	chr11:74867339..74870278-chr11:74875624..74878251,3	K562	blood:
3	chr11:74866771..74870278-chr11:74874697..74878251,4	K562	blood:

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

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10793114	0.81[AMR][1000 genomes]
rs10899076	0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs10899078	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10899079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236350	0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs11236354	0.81[AMR][1000 genomes]
rs11236356	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236357	0.86[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs11236358	0.92[ASN][1000 genomes]
rs11236361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236365	0.81[JPT][hapmap]
rs11822379	0.81[AMR][1000 genomes]
rs11827488	0.92[CEU][hapmap]
rs12361277	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12422149	0.81[JPT][hapmap]
rs17133732	0.88[CEU][hapmap]
rs3740839	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4100076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4397881	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944073	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944074	0.81[JPT][hapmap]
rs4944974	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs4944990	0.81[AMR][1000 genomes]
rs4944992	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4944993	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944994	0.86[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57073688	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592602	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs67904312	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67947132	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7125268	0.81[JPT][hapmap]
rs72996586	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72998525	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs949069	0.91[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.84[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	nsv1054122	chr11:74872792-74895241	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs881217	FCHSD2	cis	cerebellum	SCAN
rs881217	PGM2L1	cis	cerebellum	SCAN
rs881217	USP35	cis	cerebellum	SCAN
rs881217	KCTD21	cis	cerebellum	SCAN
rs881217	BTAF1	trans	cerebellum	SCAN
rs881217	GDPD4	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
3	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:74870800-74901600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:74871400-74886800	Weak transcription	Brain Substantia Nigra	brain
6	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74872400-74876400	Enhancers	Placenta	Placenta
8	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
9	chr11:74872600-74877200	Enhancers	Fetal Muscle Leg	muscle
10	chr11:74872800-74878200	Enhancers	Fetal Muscle Trunk	muscle
11	chr11:74872800-74878800	Genic enhancers	Fetal Intestine Large	intestine
12	chr11:74873000-74876200	Enhancers	Right Ventricle	heart
13	chr11:74873200-74877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:74873400-74879400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:74874000-74878000	Weak transcription	Gastric	stomach
16	chr11:74874000-74885800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:74874600-74876200	Enhancers	Pancreas	Pancrea
18	chr11:74874600-74876600	Enhancers	Fetal Stomach	stomach
19	chr11:74875000-74876200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:74875000-74876200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:74875000-74876200	Enhancers	Small Intestine	intestine
22	chr11:74875000-74876800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:74875200-74876000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:74875400-74876200	Genic enhancers	Lung	lung
25	chr11:74875400-74878200	Weak transcription	Stomach Mucosa	stomach
26	chr11:74875400-74885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:74875600-74876000	Enhancers	Liver	Liver
28	chr11:74875600-74876000	Weak transcription	Spleen	Spleen
29	chr11:74875600-74876200	Enhancers	Colonic Mucosa	Colon
30	chr11:74875600-74876200	Enhancers	Fetal Thymus	thymus
31	chr11:74875600-74876200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:74875600-74876200	Flanking Active TSS	HepG2	liver
33	chr11:74875600-74885400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:74875800-74876000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:74875800-74876000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:74875800-74876000	Enhancers	Left Ventricle	heart
37	chr11:74875800-74876200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:74875800-74877800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:74875800-74878400	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr11:74875800-74885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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