Variant report

Variant	rs13130730
Chromosome Location	chr4:152973653-152973654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11099840	1.00[ASN][1000 genomes]
rs13106080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123917	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13130547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143024	1.00[ASN][1000 genomes]
rs13149643	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1469241	1.00[ASN][1000 genomes]
rs17276212	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683987	0.92[ASN][1000 genomes]
rs7695495	1.00[ASN][1000 genomes]
rs890177	0.84[ASN][1000 genomes]
rs919013	0.84[ASN][1000 genomes]
rs9997649	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152967600-152974600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:152967600-152977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:152971000-152975200	Enhancers	Fetal Thymus	thymus
4	chr4:152972800-152974600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:152973000-152974200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:152973000-152974200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:152973000-152974400	Enhancers	Osteobl	bone
8	chr4:152973000-152975000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:152973000-152975000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:152973200-152973800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:152973200-152973800	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:152973200-152973800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:152973200-152973800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:152973200-152974000	Enhancers	HSMMtube	muscle
15	chr4:152973200-152974200	Enhancers	Thymus	Thymus
16	chr4:152973200-152974200	Enhancers	NH-A	brain
17	chr4:152973200-152974400	Enhancers	Primary T cells from cord blood	blood
18	chr4:152973200-152974400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:152973200-152974600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:152973200-152974800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:152973400-152973800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:152973400-152973800	Flanking Active TSS	Dnd41	blood
23	chr4:152973400-152973800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:152973400-152974400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr4:152973400-152974400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:152973400-152974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:152973400-152975000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr4:152973600-152974000	Enhancers	Primary B cells from cord blood	blood

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