Variant report

Variant	rs10223313
Chromosome Location	chr5:127530109-127530110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127104207..127105950-chr5:127527587..127530496,2	K562	blood:
2	chr5:127417531..127421502-chr5:127529374..127532848,3	K562	blood:
3	chr5:127525803..127528496-chr5:127529481..127533031,3	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10059867	0.93[ASN][1000 genomes]
rs10060181	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10089	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10223203	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10463838	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10463839	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10478803	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957052	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13356473	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1559263	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17164310	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17764954	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1842006	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2016015	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054444	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2228112	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2409109	0.81[ASN][1000 genomes]
rs3087889	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3792866	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3805606	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3805607	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3805612	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805615	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4835943	0.81[AMR][1000 genomes]
rs4835944	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4835945	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4836360	0.81[AMR][1000 genomes]
rs4836363	0.81[ASN][1000 genomes]
rs4836366	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4836367	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4836368	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4836369	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4836370	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59484271	0.90[ASN][1000 genomes]
rs6595806	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595807	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6875982	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6887674	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6887847	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72794392	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72794396	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794400	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794401	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736969	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7703634	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7718286	0.81[AMR][1000 genomes]
rs891886	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9968597	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
3	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
6	chr5:127478600-127531600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:127479200-127532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:127480600-127532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:127480600-127534400	Weak transcription	Gastric	stomach
10	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:127488600-127533200	Weak transcription	Stomach Mucosa	stomach
12	chr5:127490400-127532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:127494400-127534800	Weak transcription	Liver	Liver
15	chr5:127494400-127536800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:127494600-127534400	Weak transcription	HUVEC	blood vessel
17	chr5:127498400-127532200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:127499000-127532400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:127499000-127533400	Weak transcription	GM12878-XiMat	blood
20	chr5:127499200-127534600	Weak transcription	Lung	lung
21	chr5:127500400-127532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:127500400-127536800	Weak transcription	NHEK	skin
23	chr5:127504600-127536800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:127508400-127533200	Weak transcription	A549	lung
25	chr5:127510000-127532600	Weak transcription	Fetal Heart	heart
26	chr5:127511000-127532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:127511400-127535000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:127514400-127533000	Weak transcription	NHLF	lung
29	chr5:127515600-127533200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:127516400-127536800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:127516600-127534600	Weak transcription	HMEC	breast
32	chr5:127516800-127534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:127517400-127532200	Weak transcription	K562	blood
34	chr5:127520400-127534800	Weak transcription	HSMM	muscle
35	chr5:127521200-127537200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:127522400-127534400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:127522400-127534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:127522600-127532000	Weak transcription	Dnd41	blood
39	chr5:127522600-127532400	Weak transcription	Primary T cells from cord blood	blood
40	chr5:127522600-127532400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:127522600-127532600	Weak transcription	Fetal Thymus	thymus
42	chr5:127522600-127533000	Weak transcription	Ovary	ovary
43	chr5:127522600-127533200	Weak transcription	Left Ventricle	heart
44	chr5:127522600-127533800	Weak transcription	NH-A	brain
45	chr5:127522600-127536800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:127522600-127536800	Weak transcription	Brain Angular Gyrus	brain
47	chr5:127522600-127536800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:127522600-127536800	Weak transcription	Fetal Kidney	kidney
49	chr5:127522800-127532800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:127522800-127536400	Weak transcription	Brain Substantia Nigra	brain

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