Variant report

Variant	rs200449478
Chromosome Location	chr10:51597640-51597641
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	RXRA	chr10:51596991-51597814	HepG2	liver:	n/a	chr10:51597368-51597384
2	MYBL2	chr10:51596804-51597860	HepG2	liver:	n/a	n/a
3	FOXA1	chr10:51596801-51597992	HepG2	liver:	n/a	n/a
4	SP1	chr10:51596685-51597887	HepG2	liver:	n/a	n/a
5	TEAD4	chr10:51596878-51597895	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51589000-51623000	Weak transcription	Small Intestine	intestine
2	chr10:51594200-51604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:51594400-51598400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:51594400-51600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:51594400-51622400	Weak transcription	Fetal Intestine Small	intestine
6	chr10:51594400-51622800	Weak transcription	Gastric	stomach
7	chr10:51594600-51598000	Weak transcription	Ovary	ovary
8	chr10:51594600-51598000	Weak transcription	NH-A	brain
9	chr10:51594600-51614400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:51595200-51598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:51595200-51598800	Weak transcription	Osteobl	bone
12	chr10:51595200-51605000	Weak transcription	Right Ventricle	heart
13	chr10:51595200-51622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:51595400-51597800	Weak transcription	Liver	Liver
15	chr10:51595400-51599000	Weak transcription	Spleen	Spleen
16	chr10:51595400-51622400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr10:51595400-51622600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr10:51595600-51622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:51595800-51597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:51595800-51597800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:51595800-51597800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:51595800-51597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:51595800-51597800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:51595800-51598000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:51595800-51598000	Weak transcription	Fetal Thymus	thymus
26	chr10:51595800-51598000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:51595800-51600800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:51595800-51601000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:51595800-51609200	Weak transcription	Pancreas	Pancrea
30	chr10:51595800-51613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr10:51595800-51622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:51595800-51622400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:51595800-51622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:51595800-51622400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:51595800-51622400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:51595800-51622400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:51595800-51622400	Weak transcription	Fetal Intestine Large	intestine
38	chr10:51595800-51622400	Weak transcription	Fetal Muscle Leg	muscle
39	chr10:51595800-51622400	Weak transcription	Dnd41	blood
40	chr10:51595800-51622400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr10:51596000-51622400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:51596000-51622400	Weak transcription	Fetal Stomach	stomach

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