Variant report

Variant	rs2265888
Chromosome Location	chr10:43922020-43922021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43914769..43917445-chr10:43920064..43922045,2	MCF-7	breast:
2	chr10:43919994..43922298-chr10:43925539..43927816,2	K562	blood:
3	chr10:43901381..43904812-chr10:43920194..43925203,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230555	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12257917	0.81[AFR][1000 genomes]
rs2066043	0.89[AFR][1000 genomes]
rs2247860	0.96[AFR][1000 genomes]
rs2247979	0.89[AFR][1000 genomes]
rs2247981	0.89[AFR][1000 genomes]
rs2248332	0.85[AFR][1000 genomes]
rs2248335	0.90[AFR][1000 genomes]
rs2248469	0.89[AFR][1000 genomes]
rs2250444	0.87[AFR][1000 genomes]
rs2252783	0.83[AFR][1000 genomes]
rs2252785	0.83[AFR][1000 genomes]
rs2252800	0.82[AFR][1000 genomes]
rs2255967	0.81[AFR][1000 genomes]
rs2260200	0.93[AFR][1000 genomes]
rs2261636	0.87[AFR][1000 genomes]
rs2265886	0.85[AFR][1000 genomes]
rs2265887	0.87[AFR][1000 genomes]
rs2265954	0.93[AFR][1000 genomes]
rs2492404	0.81[AFR][1000 genomes]
rs2492405	0.96[AFR][1000 genomes]
rs2492407	0.89[AFR][1000 genomes]
rs2492408	0.97[AFR][1000 genomes]
rs2492409	0.88[AFR][1000 genomes]
rs2492410	0.96[AFR][1000 genomes]
rs2492411	0.96[AFR][1000 genomes]
rs2493648	0.95[AFR][1000 genomes]
rs2819026	0.90[AFR][1000 genomes]
rs2819032	0.83[AFR][1000 genomes]
rs2819034	0.81[AFR][1000 genomes]
rs2999282	0.82[AFR][1000 genomes]
rs2999286	0.85[AFR][1000 genomes]
rs2999287	0.87[AFR][1000 genomes]
rs3000700	0.85[AFR][1000 genomes]
rs4551711	0.92[AFR][1000 genomes]
rs4559639	0.88[AFR][1000 genomes]
rs4584528	0.96[AFR][1000 genomes]
rs4948726	0.87[AFR][1000 genomes]
rs56059584	0.81[AFR][1000 genomes]
rs61859002	0.88[AFR][1000 genomes]
rs6421744	0.91[AFR][1000 genomes]
rs7069214	0.95[AFR][1000 genomes]
rs7070029	0.89[AFR][1000 genomes]
rs7088430	0.80[AFR][1000 genomes]
rs7092599	0.81[AFR][1000 genomes]
rs7894374	0.81[AFR][1000 genomes]
rs9422371	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43916800-43922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:43916800-43931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
6	chr10:43917200-43922200	Weak transcription	Fetal Thymus	thymus
7	chr10:43917200-43922400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:43917200-43930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:43917200-43930800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:43917200-43931600	Weak transcription	Brain Anterior Caudate	brain
11	chr10:43917400-43922400	Weak transcription	Primary B cells from cord blood	blood
12	chr10:43917400-43930400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:43917400-43930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:43917400-43930800	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:43917400-43930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:43917400-43930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:43917400-43931600	Weak transcription	Brain Angular Gyrus	brain
18	chr10:43917600-43922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:43917600-43930800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:43917600-43930800	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:43917600-43931600	Weak transcription	Right Ventricle	heart
22	chr10:43918000-43928000	Weak transcription	Fetal Intestine Small	intestine
23	chr10:43919800-43926400	Weak transcription	K562	blood
24	chr10:43920000-43930400	Weak transcription	Liver	Liver
25	chr10:43920000-43930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:43920200-43923600	Weak transcription	HepG2	liver
27	chr10:43920200-43925200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:43920200-43931600	Weak transcription	Fetal Lung	lung
29	chr10:43921200-43922400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr10:43921200-43922600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:43921200-43922600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:43921200-43923000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:43921200-43923400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:43921200-43923400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:43921200-43923400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr10:43921200-43923800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr10:43921400-43923600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr10:43921600-43922400	Weak transcription	Primary T cells from cord blood	blood
39	chr10:43921600-43922400	Weak transcription	GM12878-XiMat	blood
40	chr10:43921600-43922800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr10:43921600-43923800	Enhancers	Primary B cells from peripheral blood	blood
42	chr10:43921800-43922400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:43921800-43926600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:43921800-43931200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:43922000-43922400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr10:43922000-43922800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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