Variant report

Variant	rs2712815
Chromosome Location	chr11:74875489-74875490
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	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
2	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
3	HDAC2	chr11:74875413-74876261	HepG2	liver:	n/a	chr11:74876181-74876189
4	NFIC	chr11:74875450-74876259	HepG2	liver:	n/a	n/a
5	EP300	chr11:74875353-74876317	HepG2	liver:	n/a	chr11:74875789-74875796 chr11:74876028-74876041
6	HEY1	chr11:74875450-74875701	HepG2	liver:	n/a	n/a
7	MBD4	chr11:74875450-74876254	HepG2	liver:	n/a	n/a
8	CHD2	chr11:74875267-74876070	HepG2	liver:	n/a	n/a
9	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
10	MYBL2	chr11:74875380-74876288	HepG2	liver:	n/a	n/a
11	SP1	chr11:74875381-74876275	HepG2	liver:	n/a	chr11:74875404-74875414

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74875175..74876729-chr11:74880662..74883580,2	MCF-7	breast:
2	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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10899075	0.87[ASN][1000 genomes]
rs1676878	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1944616	0.83[ASN][1000 genomes]
rs2018251	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2156656	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2465290	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712793	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2712795	0.82[ASN][1000 genomes]
rs2712797	0.83[ASN][1000 genomes]
rs2712799	0.83[ASN][1000 genomes]
rs2712800	0.83[ASN][1000 genomes]
rs2712801	0.85[ASN][1000 genomes]
rs2712802	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2712806	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712808	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712809	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712811	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712814	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712816	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712817	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851065	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851067	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851068	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851069	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851070	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2851071	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851072	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851075	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851093	0.83[ASN][1000 genomes]
rs2851095	0.82[ASN][1000 genomes]
rs2851097	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2851103	0.87[ASN][1000 genomes]
rs2851104	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2851105	0.84[ASN][1000 genomes]
rs2851109	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851112	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs870505	0.83[ASN][1000 genomes]
rs870506	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	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

No data

Chromatin state (count:43 , 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	chr11:74871600-74875600	Enhancers	HepG2	liver
7	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:74872400-74876400	Enhancers	Placenta	Placenta
9	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:74872600-74877200	Enhancers	Fetal Muscle Leg	muscle
11	chr11:74872800-74878200	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:74872800-74878800	Genic enhancers	Fetal Intestine Large	intestine
13	chr11:74873000-74876200	Enhancers	Right Ventricle	heart
14	chr11:74873200-74877800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:74873400-74879400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:74873800-74875600	Weak transcription	Fetal Thymus	thymus
17	chr11:74874000-74875600	Flanking Active TSS	Liver	Liver
18	chr11:74874000-74878000	Weak transcription	Gastric	stomach
19	chr11:74874000-74885800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:74874200-74875600	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:74874600-74875800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:74874600-74876200	Enhancers	Pancreas	Pancrea
23	chr11:74874600-74876600	Enhancers	Fetal Stomach	stomach
24	chr11:74875000-74875600	Enhancers	Spleen	Spleen
25	chr11:74875000-74876200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:74875000-74876200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:74875000-74876200	Enhancers	Small Intestine	intestine
28	chr11:74875000-74876800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:74875200-74875600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:74875200-74875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:74875200-74875800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:74875200-74875800	Weak transcription	Left Ventricle	heart
33	chr11:74875200-74875800	Enhancers	Ovary	ovary
34	chr11:74875200-74876000	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:74875400-74875600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:74875400-74875600	Genic enhancers	Colonic Mucosa	Colon
37	chr11:74875400-74875600	Genic enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:74875400-74875800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:74875400-74875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:74875400-74875800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:74875400-74876200	Genic enhancers	Lung	lung
42	chr11:74875400-74878200	Weak transcription	Stomach Mucosa	stomach
43	chr11:74875400-74885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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