Variant report

Variant	rs111462309
Chromosome Location	chr10:51596693-51596694
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	SP1	chr10:51596685-51597887	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TIMM23	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv895383	chr10:51260747-51724915	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1815597	chr10:51525699-51804254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
7	esv3452908	chr10:51595893-51606094	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3452919	chr10:51595893-51606094	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3344593	chr10:51595893-51606619	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51585600-51597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:51589000-51623000	Weak transcription	Small Intestine	intestine
3	chr10:51590400-51596800	Weak transcription	Esophagus	oesophagus
4	chr10:51592600-51597200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:51592800-51597200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr10:51593400-51596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:51593400-51596800	Weak transcription	HMEC	breast
8	chr10:51593400-51597200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:51593400-51597200	Weak transcription	Stomach Mucosa	stomach
10	chr10:51593600-51596800	Weak transcription	HUVEC	blood vessel
11	chr10:51593800-51597000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:51594200-51596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr10:51594200-51597200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:51594200-51604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:51594400-51597200	Weak transcription	GM12878-XiMat	blood
16	chr10:51594400-51597400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:51594400-51598400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:51594400-51600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:51594400-51622400	Weak transcription	Fetal Intestine Small	intestine
20	chr10:51594400-51622800	Weak transcription	Gastric	stomach
21	chr10:51594600-51596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:51594600-51596800	Weak transcription	NHLF	lung
23	chr10:51594600-51597400	Weak transcription	Psoas Muscle	Psoas
24	chr10:51594600-51598000	Weak transcription	Ovary	ovary
25	chr10:51594600-51598000	Weak transcription	NH-A	brain
26	chr10:51594600-51614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:51595200-51596800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr10:51595200-51596800	Weak transcription	A549	lung
29	chr10:51595200-51596800	Weak transcription	NHDF-Ad	bronchial
30	chr10:51595200-51596800	Weak transcription	NHEK	skin
31	chr10:51595200-51597000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:51595200-51597000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:51595200-51597000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:51595200-51597400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr10:51595200-51597400	Weak transcription	Aorta	Aorta
36	chr10:51595200-51597400	Weak transcription	HSMM	muscle
37	chr10:51595200-51598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:51595200-51598800	Weak transcription	Osteobl	bone
39	chr10:51595200-51605000	Weak transcription	Right Ventricle	heart
40	chr10:51595200-51622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:51595400-51596800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:51595400-51597000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr10:51595400-51597000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:51595400-51597000	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:51595400-51597000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:51595400-51597000	Weak transcription	Fetal Brain Female	brain
47	chr10:51595400-51597000	Weak transcription	Left Ventricle	heart
48	chr10:51595400-51597000	Weak transcription	Lung	lung
49	chr10:51595400-51597000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:51595400-51597000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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