Variant report

Variant	rs201250999
Chromosome Location	chr10:43697434-43697435
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
2	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:
3	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
4	chr10:43632694..43635237-chr10:43697053..43700182,3	MCF-7	breast:
5	chr10:43682496..43684417-chr10:43696461..43698091,2	K562	blood:
6	chr10:43697420..43700683-chr10:43890424..43894292,4	K562	blood:

Variant related genes	Relation type
ENSG00000169826	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000273008	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3402305	chr10:43697246-43699869	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43662200-43697600	Weak transcription	NHEK	skin
2	chr10:43674400-43697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:43675600-43700600	Weak transcription	A549	lung
4	chr10:43680000-43697600	Weak transcription	NH-A	brain
5	chr10:43688600-43697800	Weak transcription	Aorta	Aorta
6	chr10:43688800-43697600	Weak transcription	NHLF	lung
7	chr10:43689000-43697800	Weak transcription	HSMM	muscle
8	chr10:43695200-43697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:43696200-43697600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:43696400-43697600	Enhancers	Brain Hippocampus Middle	brain
11	chr10:43696400-43697600	Enhancers	Colon Smooth Muscle	Colon
12	chr10:43696400-43697800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:43696600-43697600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:43696600-43697600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:43696600-43697800	Enhancers	Brain Substantia Nigra	brain
16	chr10:43696600-43697800	Enhancers	Lung	lung
17	chr10:43696800-43697800	Enhancers	Brain Cingulate Gyrus	brain
18	chr10:43696800-43697800	Enhancers	Right Ventricle	heart
19	chr10:43697000-43697600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:43697000-43697600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:43697000-43697600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:43697000-43697600	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:43697000-43697600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr10:43697000-43697600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:43697000-43697600	Enhancers	Fetal Lung	lung
26	chr10:43697000-43698000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:43697000-43698000	Enhancers	Fetal Brain Male	brain
28	chr10:43697000-43698200	Enhancers	Spleen	Spleen
29	chr10:43697200-43697600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr10:43697200-43697600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:43697200-43697600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:43697200-43697600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:43697200-43697600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:43697200-43697600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:43697200-43697600	Enhancers	Brain Germinal Matrix	brain
36	chr10:43697200-43697600	Enhancers	Duodenum Mucosa	Duodenum
37	chr10:43697200-43697600	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr10:43697200-43697600	Flanking Active TSS	K562	blood
39	chr10:43697200-43697800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:43697200-43697800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:43697200-43697800	Enhancers	Fetal Intestine Large	intestine
42	chr10:43697200-43697800	Bivalent Enhancer	Placenta	Placenta
43	chr10:43697200-43697800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr10:43697200-43697800	Enhancers	Fetal Thymus	thymus
45	chr10:43697200-43697800	Enhancers	Ovary	ovary
46	chr10:43697200-43697800	Enhancers	Pancreas	Pancrea
47	chr10:43697200-43698000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr10:43697200-43698000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr10:43697200-43698000	Enhancers	Brain Angular Gyrus	brain
50	chr10:43697200-43698000	Enhancers	Gastric	stomach

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