Variant report

Variant	rs2256613
Chromosome Location	chr10:43899254-43899255
allele	C/T
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	chr10:43853717..43856256-chr10:43898342..43901234,2	MCF-7	breast:
5	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
ENSG00000243660	Chromatin interaction
ENSG00000252532	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10732897	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793430	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793431	0.99[ASN][1000 genomes]
rs10899798	0.99[ASN][1000 genomes]
rs10899799	0.99[ASN][1000 genomes]
rs11238542	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1126487	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126709	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1416226	0.99[ASN][1000 genomes]
rs2066043	0.96[ASN][1000 genomes]
rs2066044	0.96[ASN][1000 genomes]
rs2247860	0.94[ASN][1000 genomes]
rs2248332	0.89[ASN][1000 genomes]
rs2248335	0.94[ASN][1000 genomes]
rs2248469	0.94[ASN][1000 genomes]
rs2248706	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252783	0.99[ASN][1000 genomes]
rs2252785	0.99[ASN][1000 genomes]
rs2252804	0.86[ASN][1000 genomes]
rs2256495	0.96[ASN][1000 genomes]
rs2259045	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260162	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260200	0.91[ASN][1000 genomes]
rs2261665	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2265886	0.91[ASN][1000 genomes]
rs2265954	0.91[ASN][1000 genomes]
rs2393954	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2492403	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492405	0.91[ASN][1000 genomes]
rs2492408	0.93[ASN][1000 genomes]
rs2492409	0.94[ASN][1000 genomes]
rs2492410	0.94[ASN][1000 genomes]
rs2492411	0.94[ASN][1000 genomes]
rs2492412	0.91[ASN][1000 genomes]
rs2493648	0.90[ASN][1000 genomes]
rs2812797	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819021	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819026	0.91[ASN][1000 genomes]
rs2999276	0.99[ASN][1000 genomes]
rs2999282	0.96[ASN][1000 genomes]
rs2999287	0.86[ASN][1000 genomes]
rs3000708	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3006408	0.83[ASN][1000 genomes]
rs3750890	0.83[ASN][1000 genomes]
rs4367906	0.81[EUR][1000 genomes]
rs4551711	0.91[ASN][1000 genomes]
rs4559639	0.90[ASN][1000 genomes]
rs4584528	0.91[ASN][1000 genomes]
rs4597022	0.99[ASN][1000 genomes]
rs56407131	0.81[EUR][1000 genomes]
rs6421744	0.83[ASN][1000 genomes]
rs7069214	0.91[ASN][1000 genomes]
rs7070769	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081729	0.86[ASN][1000 genomes]
rs7089290	0.82[ASN][1000 genomes]
rs7092599	0.99[ASN][1000 genomes]
rs7894374	0.99[ASN][1000 genomes]
rs7905676	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7914140	0.80[ASN][1000 genomes]
rs7918726	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920539	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422371	0.83[ASN][1000 genomes]
rs9422512	0.80[EUR][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	chr10:43894000-43899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:43894000-43899800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:43894000-43901200	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:43894000-43901200	Genic enhancers	Fetal Intestine Small	intestine
11	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:43894200-43901200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:43894200-43901400	Weak transcription	Fetal Brain Male	brain
14	chr10:43894400-43899800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr10:43894400-43900200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:43894400-43901200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:43894400-43901200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:43894400-43901600	Weak transcription	Brain Germinal Matrix	brain
19	chr10:43894800-43899800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:43894800-43899800	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:43894800-43901400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:43894800-43901600	Weak transcription	Fetal Brain Female	brain
23	chr10:43895000-43899400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr10:43895000-43899400	Weak transcription	Right Ventricle	heart
25	chr10:43895000-43900000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:43895000-43901200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:43895000-43901200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr10:43895200-43899400	Strong transcription	HSMM	muscle
29	chr10:43895200-43901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:43895200-43901600	Weak transcription	Fetal Kidney	kidney
31	chr10:43895400-43900000	Weak transcription	Fetal Lung	lung
32	chr10:43895400-43900400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:43895600-43899800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:43895600-43899800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:43895600-43900400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:43895600-43900800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr10:43896200-43899400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:43896600-43901200	Enhancers	Psoas Muscle	Psoas
39	chr10:43896800-43901400	Enhancers	Stomach Mucosa	stomach
40	chr10:43897000-43899400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr10:43897000-43901400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:43897000-43902400	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr10:43897200-43899800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:43897400-43899400	Weak transcription	Gastric	stomach
45	chr10:43897400-43899400	Weak transcription	Ovary	ovary
46	chr10:43897400-43899400	Strong transcription	NHLF	lung
47	chr10:43897400-43901400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr10:43897400-43901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:43897600-43899400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:43897800-43899400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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