Variant report

Variant	rs551598002
Chromosome Location	chr10:49731308-49731309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49730645..49732196-chr10:49747881..49750168,2	K562	blood:
2	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
3	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
4	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
6	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction
ENSG00000128805	Chromatin interaction

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	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3392447	chr10:49731171-49733719	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49721400-49732000	Weak transcription	HMEC	breast
2	chr10:49729800-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:49730000-49731800	Enhancers	Brain Angular Gyrus	brain
4	chr10:49730000-49731800	Enhancers	Brain Substantia Nigra	brain
5	chr10:49730200-49731600	Flanking Active TSS	K562	blood
6	chr10:49730400-49731600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr10:49730400-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:49730600-49731800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:49730600-49732000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:49730600-49732200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr10:49730800-49731400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr10:49730800-49731400	Bivalent Enhancer	Fetal Heart	heart
13	chr10:49730800-49731400	Flanking Active TSS	Fetal Lung	lung
14	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:49731000-49731400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr10:49731000-49731400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:49731000-49731400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
19	chr10:49731000-49731400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr10:49731000-49731400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr10:49731000-49731400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:49731000-49731400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr10:49731000-49731400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:49731000-49731400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49731000-49731400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:49731000-49731400	Bivalent Enhancer	Liver	Liver
27	chr10:49731000-49731400	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr10:49731000-49731400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr10:49731000-49731400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr10:49731000-49731400	Flanking Active TSS	A549	lung
31	chr10:49731000-49731400	Flanking Active TSS	NH-A	brain
32	chr10:49731000-49731400	Flanking Active TSS	NHDF-Ad	bronchial
33	chr10:49731000-49731400	Flanking Active TSS	NHLF	lung
34	chr10:49731000-49731600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:49731000-49731600	Bivalent Enhancer	Lung	lung
36	chr10:49731000-49731600	Enhancers	Pancreas	Pancrea
37	chr10:49731000-49731600	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr10:49731000-49731800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:49731000-49732400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr10:49731200-49731400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:49731200-49731400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:49731200-49731400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:49731200-49731400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:49731200-49731400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:49731200-49731400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:49731200-49731400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:49731200-49731400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr10:49731200-49731400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr10:49731200-49731400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr10:49731200-49731400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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