Variant report

Variant	rs73285358
Chromosome Location	chr10:45954954-45954955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45949197..45952104-chr10:45952176..45956457,4	K562	blood:
2	chr10:45954826..45957000-chr10:45957415..45959546,2	K562	blood:

Variant related genes	Relation type
ENSG00000165406	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12253903	1.00[AMR][1000 genomes]
rs12776336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56749023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57973254	0.90[AFR][1000 genomes]
rs58393353	0.83[AMR][1000 genomes]
rs58421161	0.83[AMR][1000 genomes]
rs58437785	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58967087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60040820	0.90[AFR][1000 genomes]
rs60481109	1.00[AMR][1000 genomes]
rs60710398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285378	1.00[AMR][1000 genomes]
rs73285382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287377	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287382	0.83[AMR][1000 genomes]
rs73287385	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287396	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73289212	0.85[AMR][1000 genomes]
rs73289214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73289290	0.90[AFR][1000 genomes]
rs73289300	0.83[AMR][1000 genomes]
rs73291106	0.83[AMR][1000 genomes]
rs73292804	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:45943200-45955000	Weak transcription	Colonic Mucosa	Colon
4	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:45948000-45963600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:45948400-45955600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:45948600-45955600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:45948600-45959800	Strong transcription	Fetal Intestine Small	intestine
9	chr10:45948600-45959800	Strong transcription	Fetal Stomach	stomach
10	chr10:45949200-45965600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:45949400-45955400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr10:45949400-45959800	Strong transcription	Primary T cells from cord blood	blood
13	chr10:45949800-45958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:45950000-45956800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr10:45950000-45967200	Weak transcription	Psoas Muscle	Psoas
16	chr10:45950200-45959400	Strong transcription	Fetal Intestine Large	intestine
17	chr10:45950200-45960600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:45950400-45956800	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:45950400-45957000	Weak transcription	Fetal Kidney	kidney
20	chr10:45950400-45959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:45950400-45959600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:45950400-45966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:45950600-45958600	Weak transcription	Right Atrium	heart
24	chr10:45950800-45955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:45950800-45955800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:45950800-45957000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:45950800-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:45951000-45955400	Strong transcription	Adipose Nuclei	Adipose
29	chr10:45951000-45955400	Strong transcription	Thymus	Thymus
30	chr10:45951000-45956400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:45951000-45956800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr10:45951000-45958400	Weak transcription	Fetal Heart	heart
33	chr10:45951000-45958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:45951000-45960600	Weak transcription	Fetal Brain Male	brain
35	chr10:45951000-45965600	Weak transcription	Brain Germinal Matrix	brain
36	chr10:45951200-45955200	Strong transcription	Gastric	stomach
37	chr10:45951200-45958600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:45951200-45959000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr10:45951200-45959400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr10:45951200-45959600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr10:45951200-45959600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:45951200-45960600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:45951400-45955600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:45951400-45962200	Weak transcription	HMEC	breast
45	chr10:45951600-45955200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr10:45951600-45955600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:45951600-45955600	Strong transcription	Pancreas	Pancrea
48	chr10:45951600-45956000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:45951600-45956200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:45951600-45956800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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