Variant report

Variant	rs551592033
Chromosome Location	chr2:9943198-9943199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9939689..9943559-chr2:10181776..10185625,4	K562	blood:
2	chr2:9942291..9943887-chr2:10083630..10085940,2	MCF-7	breast:
3	chr2:9941416..9943332-chr2:10258311..10260459,2	K562	blood:
4	chr2:9942046..9945033-chr2:9945080..9947215,2	K562	blood:
5	chr2:9938188..9943513-chr2:9981101..9985006,11	MCF-7	breast:
6	chr2:9941455..9943586-chr2:10099873..10102242,2	MCF-7	breast:
7	chr2:9940167..9943661-chr2:10053697..10057580,3	MCF-7	breast:
8	chr2:9940885..9945263-chr2:9946727..9949411,4	K562	blood:
9	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
10	chr2:9940003..9944697-chr2:9981835..9986230,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv580958	chr2:9942159-9955047	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9936600-9943800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:9937200-9943800	Enhancers	Esophagus	oesophagus
4	chr2:9937200-9944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:9937200-9944200	Enhancers	Fetal Intestine Small	intestine
6	chr2:9937800-9943800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:9938800-9943600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:9939000-9943200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:9939400-9943800	Enhancers	Fetal Muscle Leg	muscle
10	chr2:9939600-9944000	Enhancers	Adipose Nuclei	Adipose
11	chr2:9939800-9943800	Enhancers	NHDF-Ad	bronchial
12	chr2:9939800-9944200	Enhancers	Placenta	Placenta
13	chr2:9940000-9943400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:9940000-9944000	Enhancers	Fetal Intestine Large	intestine
15	chr2:9940000-9944000	Enhancers	NHLF	lung
16	chr2:9940200-9944000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:9940400-9943800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:9940400-9943800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
20	chr2:9940600-9949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:9940600-9949800	Weak transcription	Lung	lung
22	chr2:9940800-9943800	Enhancers	HSMMtube	muscle
23	chr2:9940800-9944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:9941000-9943200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr2:9941000-9944000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:9941200-9948400	Weak transcription	Stomach Mucosa	stomach
27	chr2:9941400-9943200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:9941400-9943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:9941400-9943400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:9941600-9943200	Enhancers	Fetal Brain Male	brain
31	chr2:9941800-9943200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr2:9941800-9944000	Enhancers	HMEC	breast
33	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
34	chr2:9942000-9943400	Enhancers	NH-A	brain
35	chr2:9942000-9943600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:9942200-9943200	Enhancers	Fetal Stomach	stomach
37	chr2:9942200-9943400	Enhancers	A549	lung
38	chr2:9942200-9943600	Enhancers	Hela-S3	cervix
39	chr2:9942200-9944000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:9942200-9944000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:9942200-9944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:9942200-9944000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:9942200-9944000	Enhancers	HSMM	muscle
44	chr2:9942200-9945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:9942400-9943600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr2:9942400-9944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:9942400-9944000	Enhancers	NHEK	skin
48	chr2:9942400-9944000	Enhancers	Osteobl	bone
49	chr2:9942400-9944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:9942600-9944000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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