Variant report

Variant	rs11813474
Chromosome Location	chr10:93874217-93874218
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	CEBPB	chr10:93874110-93874358	HepG2	liver:	n/a	n/a
2	FOXA2	chr10:93873564-93874717	HepG2	liver:	n/a	chr10:93874122-93874134
3	FOXA1	chr10:93873868-93874447	HepG2	liver:	n/a	chr10:93874122-93874134
4	SP1	chr10:93873709-93874412	HepG2	liver:	n/a	n/a
5	ARID3A	chr10:93873809-93874362	HepG2	liver:	n/a	n/a
6	RXRA	chr10:93873686-93874324	HepG2	liver:	n/a	chr10:93874016-93874038 chr10:93874018-93874037
7	FOXA1	chr10:93873765-93874501	HepG2	liver:	n/a	chr10:93874122-93874134
8	MBD4	chr10:93873838-93874456	HepG2	liver:	n/a	n/a
9	HNF4A	chr10:93874019-93874329	HepG2	liver:	n/a	n/a
10	EP300	chr10:93873749-93874405	HepG2	liver:	n/a	chr10:93874121-93874131
11	FOXA2	chr10:93873902-93874431	HepG2	liver:	n/a	chr10:93874122-93874134
12	EP300	chr10:93873848-93874457	HepG2	liver:	n/a	chr10:93874121-93874131
13	FOXA1	chr10:93873747-93874564	HepG2	liver:	n/a	chr10:93874122-93874134
14	MYBL2	chr10:93873679-93874466	HepG2	liver:	n/a	n/a
15	TEAD4	chr10:93873901-93874426	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:93873936-93874458	HepG2	liver:	n/a	chr10:93874122-93874134
17	NFIC	chr10:93873567-93874550	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:93870349..93872149-chr10:93874074..93876039,2	K562	blood:

Variant related genes	Relation type
SDHCP2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11817048	1.00[AMR][1000 genomes]
rs56836746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58803861	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60017701	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61204062	0.90[AFR][1000 genomes]
rs61736268	1.00[AMR][1000 genomes]
rs6583806	0.93[AMR][1000 genomes]
rs7078569	0.87[AMR][1000 genomes]
rs7087060	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7100640	0.83[YRI][hapmap]
rs724425	0.84[YRI][hapmap]
rs73318008	1.00[AMR][1000 genomes]
rs7920742	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs7921368	1.00[AMR][1000 genomes]
rs9663787	1.00[AMR][1000 genomes]
rs9919492	0.93[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv895893	chr10:93747260-93875264	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93841200-93881600	Weak transcription	Esophagus	oesophagus
2	chr10:93859200-93901400	Weak transcription	Primary B cells from cord blood	blood
3	chr10:93859400-93874800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:93861400-93879000	Weak transcription	Adipose Nuclei	Adipose
5	chr10:93862000-93881400	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:93862000-93881400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:93862000-93883200	Weak transcription	Fetal Stomach	stomach
8	chr10:93863000-93878600	Weak transcription	Gastric	stomach
9	chr10:93863800-93879200	Weak transcription	GM12878-XiMat	blood
10	chr10:93863800-93881400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:93863800-93881600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:93867400-93876200	Weak transcription	Brain Germinal Matrix	brain
13	chr10:93867400-93881800	Weak transcription	Stomach Mucosa	stomach
14	chr10:93868000-93901800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:93870200-93875000	Enhancers	HepG2	liver
16	chr10:93870200-93878400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:93870400-93876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:93870800-93881400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:93871000-93881600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:93871000-93881800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:93871000-93882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:93871000-93882400	Weak transcription	Primary T cells from cord blood	blood
23	chr10:93871000-93887200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr10:93871400-93879000	Weak transcription	Brain Substantia Nigra	brain
25	chr10:93871400-93881400	Weak transcription	Brain Anterior Caudate	brain
26	chr10:93871600-93882000	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:93871800-93881400	Weak transcription	Aorta	Aorta
28	chr10:93871800-93881600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:93871800-93884400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr10:93872400-93881400	Weak transcription	Left Ventricle	heart
31	chr10:93873000-93878400	Weak transcription	Psoas Muscle	Psoas
32	chr10:93873000-93881400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:93873200-93877400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:93873400-93874400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr10:93873400-93874400	Enhancers	Fetal Lung	lung
36	chr10:93873600-93874600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr10:93873600-93878400	Weak transcription	Pancreas	Pancrea
38	chr10:93873600-93881400	Weak transcription	Ovary	ovary
39	chr10:93873600-93882000	Weak transcription	Lung	lung
40	chr10:93873600-93883000	Weak transcription	Right Atrium	heart
41	chr10:93874000-93874600	Enhancers	A549	lung
42	chr10:93874000-93881400	Weak transcription	Right Ventricle	heart
43	chr10:93874000-93883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:93874000-93885000	Weak transcription	Small Intestine	intestine
45	chr10:93874200-93874400	Enhancers	Liver	Liver
46	chr10:93874200-93874400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr10:93874200-93874600	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:93874200-93874600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr10:93874200-93875000	Enhancers	Fetal Intestine Small	intestine
50	chr10:93874200-93881400	Weak transcription	Fetal Heart	heart

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