Variant report

Variant	rs13141253
Chromosome Location	chr4:10590886-10590887
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10589594..10591701-chr4:10595325..10597729,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11936513	0.92[ASN][1000 genomes]
rs11938471	0.83[ASN][1000 genomes]
rs11945398	0.92[ASN][1000 genomes]
rs11945572	0.97[ASN][1000 genomes]
rs16870163	0.97[ASN][1000 genomes]
rs16870263	1.00[ASN][1000 genomes]
rs16870294	1.00[ASN][1000 genomes]
rs16870318	0.97[ASN][1000 genomes]
rs16870323	0.92[ASN][1000 genomes]
rs16870332	0.89[ASN][1000 genomes]
rs16870340	0.89[ASN][1000 genomes]
rs16870509	0.94[ASN][1000 genomes]
rs16870590	0.89[ASN][1000 genomes]
rs16870613	0.89[ASN][1000 genomes]
rs16870645	0.83[ASN][1000 genomes]
rs16870716	0.83[ASN][1000 genomes]
rs16870781	0.83[ASN][1000 genomes]
rs16870813	0.83[ASN][1000 genomes]
rs16871047	0.86[ASN][1000 genomes]
rs2869469	0.87[AMR][1000 genomes]
rs2869472	0.97[ASN][1000 genomes]
rs6448136	0.89[ASN][1000 genomes]
rs6448137	0.89[ASN][1000 genomes]
rs6821453	0.86[ASN][1000 genomes]
rs6849844	0.87[AMR][1000 genomes]
rs6852472	0.87[AMR][1000 genomes]
rs763676	1.00[ASN][1000 genomes]
rs7656295	0.83[ASN][1000 genomes]
rs7667170	0.87[AMR][1000 genomes]
rs7673069	0.97[ASN][1000 genomes]
rs7680278	0.87[AMR][1000 genomes]
rs7694908	0.92[ASN][1000 genomes]
rs7696419	0.87[AMR][1000 genomes]
rs8180364	0.87[AMR][1000 genomes]
rs887113	0.87[AMR][1000 genomes]
rs9684265	0.87[AMR][1000 genomes]
rs9685496	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
4	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
5	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
6	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
8	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
9	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
11	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
12	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
13	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv878697	chr4:10501373-10831866	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv878698	chr4:10536544-10632404	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10585800-10591600	Weak transcription	HSMM	muscle
2	chr4:10586000-10591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:10586000-10591400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:10586000-10591400	Weak transcription	Primary B cells from cord blood	blood
5	chr4:10586200-10591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:10586200-10591000	Weak transcription	Spleen	Spleen
7	chr4:10586400-10591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:10586400-10591000	Weak transcription	NH-A	brain
9	chr4:10586400-10591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:10586400-10591400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:10586600-10591000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:10586600-10591400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:10586600-10591400	Weak transcription	NHLF	lung
14	chr4:10588400-10591000	Enhancers	Fetal Thymus	thymus
15	chr4:10588400-10592800	Enhancers	Dnd41	blood
16	chr4:10588600-10592400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:10588600-10592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:10588800-10592000	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:10588800-10592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:10588800-10592800	Enhancers	Primary T cells from cord blood	blood
22	chr4:10588800-10592800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr4:10589000-10592200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:10589200-10592400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:10589400-10592400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr4:10589600-10591800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:10590000-10591000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:10590000-10591200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:10590000-10591400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:10590600-10591600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:10590600-10591800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:10590600-10592600	Enhancers	Thymus	Thymus
33	chr4:10590600-10593000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:10590800-10591400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:10590800-10591400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:10590800-10591400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr4:10590800-10591600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:10590800-10591600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:10590800-10591600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:10590800-10591600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:10590800-10591600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:10590800-10591600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:10590800-10591600	Enhancers	Fetal Muscle Leg	muscle
44	chr4:10590800-10592000	Weak transcription	Osteobl	bone
45	chr4:10590800-10592200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:10590800-10592400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:10590800-10592800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr4:10590800-10593400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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