Variant report

Variant	rs112876253
Chromosome Location	chr10:49731572-49731573
allele	C/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: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv2358372	chr10:49731571-49731572	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 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	chr10:49721400-49732000	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	chr10:49730800-49732800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr10:49730800-49732800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:49731000-49731600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:49731000-49731600	Bivalent Enhancer	Lung	lung
15	chr10:49731000-49731600	Enhancers	Pancreas	Pancrea
16	chr10:49731000-49731600	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr10:49731000-49731800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:49731000-49732400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr10:49731200-49731600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:49731200-49731600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:49731200-49731600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:49731200-49731600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:49731200-49731600	Enhancers	Brain Anterior Caudate	brain
24	chr10:49731200-49731600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr10:49731200-49731600	Enhancers	Esophagus	oesophagus
27	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr10:49731200-49731600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr10:49731200-49731600	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr10:49731200-49731600	Flanking Active TSS	HSMM	muscle
36	chr10:49731200-49731600	Flanking Active TSS	Osteobl	bone
37	chr10:49731200-49731800	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr10:49731200-49731800	Flanking Active TSS	HUVEC	blood vessel
39	chr10:49731200-49732000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr10:49731200-49732000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr10:49731200-49732000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr10:49731200-49732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:49731200-49732200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:49731200-49732200	Enhancers	Gastric	stomach
45	chr10:49731200-49732200	Active TSS	Right Atrium	heart
46	chr10:49731200-49732200	Flanking Active TSS	Right Ventricle	heart
47	chr10:49731200-49732200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
48	chr10:49731200-49732200	Bivalent Enhancer	Spleen	Spleen
49	chr10:49731200-49732200	Active TSS	HSMMtube	muscle
50	chr10:49731200-49732400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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