Variant report

Variant	rs113320510
Chromosome Location	chr10:49674816-49674817
allele	A/C
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	MAX	chr10:49674718-49675160	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr10:49674664-49674946	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr10:49674615-49675127	H1-hESC	embryonic stem cell:	n/a	chr10:49674740-49674750
4	E2F6	chr10:49674615-49675207	H1-hESC	embryonic stem cell:	n/a	chr10:49674740-49674750
5	TEAD4	chr10:49674679-49675017	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr10:49674596-49675191	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49639661..49642619-chr10:49674798..49676427,2	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3376035	chr10:49673571-49676119	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3348914	chr10:49673721-49675819	Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
3	chr10:49665400-49675000	Weak transcription	HUVEC	blood vessel
4	chr10:49668400-49676200	Weak transcription	NHLF	lung
5	chr10:49670200-49675200	Weak transcription	Osteobl	bone
6	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:49671200-49675400	Enhancers	Brain Hippocampus Middle	brain
8	chr10:49671400-49675200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:49671400-49675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:49672400-49675200	Bivalent Enhancer	Placenta	Placenta
11	chr10:49672400-49675400	Enhancers	Brain Substantia Nigra	brain
12	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
14	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
15	chr10:49672800-49675200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:49673000-49681200	Weak transcription	HSMM	muscle
17	chr10:49673400-49675000	Weak transcription	Fetal Thymus	thymus
18	chr10:49673400-49675000	Flanking Active TSS	HMEC	breast
19	chr10:49673600-49675400	Enhancers	NHDF-Ad	bronchial
20	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:49673800-49675200	Bivalent Enhancer	Fetal Brain Male	brain
22	chr10:49673800-49676200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:49674000-49675000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr10:49674000-49675000	Weak transcription	K562	blood
25	chr10:49674000-49675200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr10:49674000-49675400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:49674200-49675000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr10:49674200-49675000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr10:49674200-49675000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:49674200-49675000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:49674200-49675000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:49674200-49675000	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr10:49674200-49675000	Enhancers	Lung	lung
34	chr10:49674200-49675200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:49674200-49675200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:49674200-49675200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr10:49674200-49676200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:49674400-49675000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr10:49674400-49675000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:49674400-49675000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr10:49674400-49675000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr10:49674400-49675000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:49674400-49675000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:49674400-49675000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
45	chr10:49674400-49675000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr10:49674400-49675200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:49674400-49675200	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr10:49674400-49675200	Enhancers	Pancreas	Pancrea
49	chr10:49674400-49675400	Active TSS	Brain Cingulate Gyrus	brain
50	chr10:49674600-49675000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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