Variant report

Variant	rs2299893
Chromosome Location	chr7:139618590-139618591
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139616752..139618637-chr7:139673605..139675135,2	K562	blood:
2	chr7:139443511..139447494-chr7:139617776..139621244,3	K562	blood:
3	chr7:139574219..139575833-chr7:139617525..139620392,2	K562	blood:
4	chr7:139617102..139619901-chr7:139650362..139652571,2	K562	blood:
5	chr7:139612773..139615272-chr7:139618584..139621625,3	K562	blood:
6	chr7:139618302..139620555-chr7:139646388..139648923,2	K562	blood:
7	chr7:139588216..139591101-chr7:139616007..139619980,4	K562	blood:
8	chr7:139574219..139576621-chr7:139617525..139620344,2	K562	blood:
9	chr7:139444959..139447494-chr7:139617776..139619971,2	K562	blood:
10	chr7:139609132..139615823-chr7:139616902..139621625,10	K562	blood:
11	chr7:139614916..139618686-chr7:139627017..139630636,4	K562	blood:
12	chr7:139616579..139619472-chr7:139620171..139622168,3	K562	blood:
13	chr7:139588216..139590014-chr7:139618480..139620084,2	K562	blood:

No data

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2284205	0.85[JPT][hapmap]
rs2299891	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4726457	0.90[CEU][hapmap]
rs6464450	0.85[JPT][hapmap]
rs6952982	0.85[JPT][hapmap]
rs6965165	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS 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	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:139613800-139629800	Weak transcription	Spleen	Spleen
3	chr7:139614000-139618600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:139614200-139619600	Enhancers	HSMMtube	muscle
5	chr7:139615200-139620000	Enhancers	Right Ventricle	heart
6	chr7:139615400-139645000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:139616200-139618800	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:139616400-139618800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:139616400-139619400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:139616800-139618600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:139616800-139618600	Enhancers	HSMM	muscle
12	chr7:139616800-139619200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:139616800-139621400	Weak transcription	Colonic Mucosa	Colon
14	chr7:139617000-139620600	Enhancers	Fetal Heart	heart
15	chr7:139617000-139622800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:139617200-139622800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:139617400-139619600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:139617600-139618800	Enhancers	GM12878-XiMat	blood
19	chr7:139617600-139621800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:139617600-139621800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:139617800-139618600	Enhancers	NHLF	lung
22	chr7:139617800-139619200	Enhancers	Fetal Lung	lung
23	chr7:139618000-139618600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:139618000-139618600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:139618000-139618600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr7:139618000-139618600	Enhancers	Fetal Muscle Leg	muscle
27	chr7:139618000-139618600	Enhancers	Right Atrium	heart
28	chr7:139618000-139618800	Enhancers	Fetal Stomach	stomach
29	chr7:139618000-139618800	Enhancers	Psoas Muscle	Psoas
30	chr7:139618000-139618800	Flanking Active TSS	K562	blood
31	chr7:139618000-139620000	Enhancers	Left Ventricle	heart
32	chr7:139618000-139620800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:139618200-139618600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:139618200-139618600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:139618200-139618600	Enhancers	Placenta	Placenta
36	chr7:139618200-139618600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:139618400-139619200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:139618400-139620000	Weak transcription	Fetal Thymus	thymus

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