Variant report

Variant	rs158387
Chromosome Location	chr10:43126588-43126589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43124209..43130093-chr10:43131977..43134761,6	K562	blood:
2	chr10:43125083..43130093-chr10:43132029..43136060,7	K562	blood:
3	chr10:43125885..43127699-chr10:43129230..43130895,2	K562	blood:

Variant related genes	Relation type
ENSG00000196693	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10490937	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11239687	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs149350	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs158367	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs158368	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs158370	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs158371	0.95[ASN][1000 genomes]
rs158372	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs158374	0.92[ASN][1000 genomes]
rs158380	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs158381	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs158383	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs209382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs209384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs289184	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs289185	0.91[ASN][1000 genomes]
rs289189	0.92[ASN][1000 genomes]
rs289190	0.92[ASN][1000 genomes]
rs289191	0.92[ASN][1000 genomes]
rs289192	0.92[ASN][1000 genomes]
rs491625	0.92[ASN][1000 genomes]
rs504209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs521852	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs535169	0.82[ASN][1000 genomes]
rs594295	0.89[ASN][1000 genomes]
rs615096	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs626062	0.89[ASN][1000 genomes]
rs655987	0.89[ASN][1000 genomes]
rs787311	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7924018	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv975036	chr10:43090222-43132879	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43089800-43133000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:43089800-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:43089800-43133000	Weak transcription	Right Ventricle	heart
4	chr10:43090800-43133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:43091200-43132800	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:43091400-43132400	Weak transcription	HMEC	breast
7	chr10:43091400-43132800	Weak transcription	Colonic Mucosa	Colon
8	chr10:43094400-43133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:43101000-43133000	Weak transcription	NH-A	brain
10	chr10:43102000-43132000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:43106200-43132600	Weak transcription	Fetal Heart	heart
12	chr10:43107000-43133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:43107400-43129000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:43108000-43133200	Weak transcription	Psoas Muscle	Psoas
15	chr10:43109000-43133200	Weak transcription	Aorta	Aorta
16	chr10:43111200-43133000	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:43111600-43128400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:43111600-43132800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:43116000-43130000	Weak transcription	Stomach Mucosa	stomach
20	chr10:43117200-43128400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr10:43117600-43133000	Weak transcription	Brain Angular Gyrus	brain
22	chr10:43117800-43127800	Strong transcription	Fetal Intestine Large	intestine
23	chr10:43117800-43129000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr10:43118000-43129200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:43118200-43129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:43118200-43133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:43118200-43133000	Weak transcription	HSMM	muscle
28	chr10:43118200-43133000	Weak transcription	NHLF	lung
29	chr10:43118400-43130200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:43119400-43127800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:43119600-43127400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:43119600-43133200	Weak transcription	Gastric	stomach
33	chr10:43119800-43127800	Strong transcription	Adipose Nuclei	Adipose
34	chr10:43119800-43132400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:43119800-43132400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:43119800-43133000	Weak transcription	Brain Anterior Caudate	brain
37	chr10:43119800-43133000	Weak transcription	Brain Substantia Nigra	brain
38	chr10:43119800-43133000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:43119800-43133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:43119800-43133200	Weak transcription	Spleen	Spleen
41	chr10:43120000-43129000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr10:43120000-43133000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:43120200-43129000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr10:43120200-43133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:43120800-43127600	Weak transcription	GM12878-XiMat	blood
46	chr10:43121000-43128800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr10:43121000-43129000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr10:43121000-43129800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr10:43121200-43129200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr10:43121800-43133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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