Variant report

Variant	rs4907251
Chromosome Location	chr2:97484814-97484815
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97484548..97487519-chr2:97496116..97499038,3	K562	blood:
2	chr2:97302043..97304772-chr2:97480834..97485283,4	K562	blood:
3	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
4	chr2:97303859..97305572-chr2:97481972..97484956,2	K562	blood:
5	chr2:97483756..97486105-chr2:97524140..97526668,2	K562	blood:
6	chr2:97484195..97486441-chr2:97527704..97530439,2	K562	blood:
7	chr2:97424794..97426969-chr2:97483336..97486103,2	MCF-7	breast:
8	chr2:97482077..97484941-chr2:97522185..97524472,2	MCF-7	breast:
9	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
10	chr2:97483777..97486201-chr2:97534208..97536891,3	K562	blood:
11	chr2:97482924..97486110-chr2:97522270..97524804,3	MCF-7	breast:
12	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000163126	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10189727	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs11682994	0.82[JPT][hapmap];1.00[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1257020	0.83[MKK][hapmap];1.00[YRI][hapmap]
rs1318597	0.88[JPT][hapmap]
rs1624844	1.00[YRI][hapmap]
rs1796029	1.00[YRI][hapmap]
rs1796046	1.00[YRI][hapmap]
rs2280355	0.83[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs2678385	0.89[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6576984	0.88[JPT][hapmap]
rs6576993	1.00[YRI][hapmap]
rs6707255	0.83[MKK][hapmap];1.00[YRI][hapmap]
rs6727384	0.82[JPT][hapmap]
rs6730773	0.88[JPT][hapmap]
rs7582249	0.82[JPT][hapmap]
rs7586317	0.88[JPT][hapmap]
rs7608661	0.88[JPT][hapmap]
rs968470	0.82[JPT][hapmap]
rs9789421	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs994430	0.88[JPT][hapmap]

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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97482800-97485200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:97482800-97485400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:97483000-97485200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
4	chr2:97483000-97485800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr2:97483000-97486600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr2:97483000-97487600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr2:97483000-97490800	Enhancers	Fetal Heart	heart
8	chr2:97483200-97485600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr2:97483400-97485000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:97483400-97485000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:97483400-97485200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:97483400-97486200	Enhancers	Gastric	stomach
13	chr2:97483400-97487000	Enhancers	Left Ventricle	heart
14	chr2:97483600-97485000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:97483600-97485200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:97483600-97485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:97483600-97485200	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr2:97483600-97485400	Enhancers	Adipose Nuclei	Adipose
19	chr2:97483600-97486400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:97483600-97488600	Weak transcription	Aorta	Aorta
21	chr2:97483600-97490000	Weak transcription	NH-A	brain
22	chr2:97483600-97492200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:97483600-97493400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:97483600-97493400	Weak transcription	HSMMtube	muscle
25	chr2:97483600-97498200	Weak transcription	HSMM	muscle
26	chr2:97483800-97485000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:97483800-97485000	Enhancers	Ovary	ovary
28	chr2:97483800-97485400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:97483800-97485400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:97483800-97487000	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr2:97483800-97487400	Enhancers	Fetal Brain Male	brain
32	chr2:97483800-97487400	Enhancers	Right Atrium	heart
33	chr2:97483800-97487600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:97483800-97487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:97483800-97487600	Enhancers	Stomach Mucosa	stomach
36	chr2:97483800-97488600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:97483800-97490000	Genic enhancers	Fetal Muscle Leg	muscle
38	chr2:97483800-97492200	Weak transcription	NHLF	lung
39	chr2:97483800-97493200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:97483800-97493400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:97483800-97493600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:97483800-97494400	Weak transcription	Osteobl	bone
43	chr2:97483800-97498400	Weak transcription	NHDF-Ad	bronchial
44	chr2:97484000-97485000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:97484000-97485000	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:97484000-97485000	Genic enhancers	Fetal Lung	lung
47	chr2:97484000-97485200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:97484000-97485200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:97484000-97485200	Enhancers	GM12878-XiMat	blood
50	chr2:97484000-97485400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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