Variant report

Variant	rs2256495
Chromosome Location	chr10:43899748-43899749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43897221..43899956-chr10:43931853..43934040,2	MCF-7	breast:
2	chr10:43753888..43756103-chr10:43898148..43900430,2	K562	blood:
3	chr10:43857152..43860399-chr10:43897567..43900656,3	MCF-7	breast:
4	chr10:43899308..43901344-chr10:43930601..43933221,2	MCF-7	breast:
5	chr10:43853717..43856256-chr10:43898342..43901234,2	MCF-7	breast:
6	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
ENSG00000252532	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10732897	0.88[ASN][1000 genomes]
rs10793430	0.96[ASN][1000 genomes]
rs10793431	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899798	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899799	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11238542	0.85[ASN][1000 genomes]
rs1126487	0.96[ASN][1000 genomes]
rs12257917	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1416226	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066043	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066044	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247860	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2248332	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2248335	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2248469	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2248706	0.90[ASN][1000 genomes]
rs2252783	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252785	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252800	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2252804	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2255967	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2256613	0.96[ASN][1000 genomes]
rs2259045	0.88[ASN][1000 genomes]
rs2260162	0.88[ASN][1000 genomes]
rs2260200	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2265886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2265952	0.85[AMR][1000 genomes]
rs2265954	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393954	0.80[ASN][1000 genomes]
rs2492403	0.88[ASN][1000 genomes]
rs2492405	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2492408	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2492409	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492410	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492411	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492412	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2493648	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2819021	0.91[ASN][1000 genomes]
rs2819026	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2819032	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2819034	0.85[AMR][1000 genomes]
rs2999276	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2999282	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2999287	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3000700	0.82[AMR][1000 genomes]
rs4551711	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4559639	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4584528	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597022	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56059584	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6421744	0.83[ASN][1000 genomes]
rs7069214	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7070769	0.96[ASN][1000 genomes]
rs7081729	0.83[ASN][1000 genomes]
rs7089290	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7092599	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7894374	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914140	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7918726	0.96[ASN][1000 genomes]
rs7920539	0.96[ASN][1000 genomes]
rs9422371	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
2	chr10:43893400-43899800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:43893600-43899800	Genic enhancers	NHEK	skin
5	chr10:43893600-43901200	Weak transcription	Brain Angular Gyrus	brain
6	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
7	chr10:43894000-43899800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:43894000-43901200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:43894000-43901200	Genic enhancers	Fetal Intestine Small	intestine
10	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43894200-43901200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:43894200-43901400	Weak transcription	Fetal Brain Male	brain
13	chr10:43894400-43899800	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr10:43894400-43900200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:43894400-43901200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:43894400-43901200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:43894400-43901600	Weak transcription	Brain Germinal Matrix	brain
18	chr10:43894800-43899800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:43894800-43899800	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:43894800-43901400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:43894800-43901600	Weak transcription	Fetal Brain Female	brain
22	chr10:43895000-43900000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:43895000-43901200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:43895000-43901200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:43895200-43901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:43895200-43901600	Weak transcription	Fetal Kidney	kidney
27	chr10:43895400-43900000	Weak transcription	Fetal Lung	lung
28	chr10:43895400-43900400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr10:43895600-43899800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr10:43895600-43899800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:43895600-43900400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:43895600-43900800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:43896600-43901200	Enhancers	Psoas Muscle	Psoas
34	chr10:43896800-43901400	Enhancers	Stomach Mucosa	stomach
35	chr10:43897000-43901400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr10:43897000-43902400	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr10:43897200-43899800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:43897400-43901400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:43897400-43901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:43897800-43899800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr10:43898000-43899800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:43898000-43900200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:43898000-43900600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr10:43898000-43900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:43898000-43901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr10:43898200-43899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr10:43898200-43899800	Genic enhancers	Fetal Muscle Leg	muscle
48	chr10:43898200-43900000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:43898200-43901000	Weak transcription	Fetal Heart	heart
50	chr10:43898400-43899800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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