Variant report

Variant	rs1975015
Chromosome Location	chr5:111500427-111500428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111500199..111502047-chr5:111605463..111607501,2	K562	blood:
2	chr5:110700919..110704293-chr5:111499936..111503325,3	K562	blood:
3	chr5:111499476..111503077-chr5:111510420..111514419,5	MCF-7	breast:
4	chr3:159480895..159481781-chr5:111499747..111500585,2	Hela-S3	cervix:
5	chr5:110702072..110704293-chr5:111499936..111501832,2	K562	blood:

Variant related genes	Relation type
ENSG00000250588	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10040749	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054560	1.00[ASN][1000 genomes]
rs10054719	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10065740	1.00[ASN][1000 genomes]
rs10068493	1.00[ASN][1000 genomes]
rs10069011	1.00[ASN][1000 genomes]
rs10070995	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1020951	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs10477478	1.00[ASN][1000 genomes]
rs10478073	1.00[ASN][1000 genomes]
rs1054724	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078128	1.00[ASN][1000 genomes]
rs11241153	1.00[ASN][1000 genomes]
rs12186685	1.00[ASN][1000 genomes]
rs12188700	1.00[ASN][1000 genomes]
rs12189034	1.00[ASN][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs1366144	1.00[ASN][1000 genomes]
rs1427978	1.00[ASN][1000 genomes]
rs1560052	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560053	1.00[ASN][1000 genomes]
rs1560054	1.00[ASN][1000 genomes]
rs1560055	1.00[ASN][1000 genomes]
rs1560057	1.00[ASN][1000 genomes]
rs1560058	1.00[ASN][1000 genomes]
rs17134319	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs2114991	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416277	1.00[ASN][1000 genomes]
rs27413	1.00[ASN][1000 genomes]
rs4602685	1.00[ASN][1000 genomes]
rs4957632	1.00[ASN][1000 genomes]
rs4957634	1.00[ASN][1000 genomes]
rs4957636	1.00[ASN][1000 genomes]
rs4958002	1.00[ASN][1000 genomes]
rs4958003	1.00[ASN][1000 genomes]
rs4958004	1.00[ASN][1000 genomes]
rs4958009	1.00[ASN][1000 genomes]
rs4958010	1.00[ASN][1000 genomes]
rs4958012	1.00[ASN][1000 genomes]
rs4958013	1.00[ASN][1000 genomes]
rs4958014	1.00[ASN][1000 genomes]
rs4958015	1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958025	1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56881711	1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs59537089	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs62372421	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594567	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594569	1.00[ASN][1000 genomes]
rs6594571	1.00[ASN][1000 genomes]
rs6594574	1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6863063	1.00[ASN][1000 genomes]
rs6872947	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876893	1.00[ASN][1000 genomes]
rs6878423	1.00[ASN][1000 genomes]
rs6884589	1.00[ASN][1000 genomes]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs7703522	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704087	1.00[ASN][1000 genomes]
rs7706160	1.00[ASN][1000 genomes]
rs7709484	1.00[ASN][1000 genomes]
rs7710973	1.00[ASN][1000 genomes]
rs7711158	1.00[ASN][1000 genomes]
rs7716309	1.00[ASN][1000 genomes]
rs7717160	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717363	1.00[ASN][1000 genomes]
rs7719346	1.00[ASN][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[ASN][1000 genomes]
rs821749	1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111501400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:111497600-111502000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:111497600-111502000	Weak transcription	Aorta	Aorta
4	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
5	chr5:111497800-111504400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:111497800-111505000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr5:111497800-111505000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr5:111498000-111502600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:111498000-111503600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:111498000-111504800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:111498000-111504800	Strong transcription	Fetal Thymus	thymus
12	chr5:111498000-111505600	Strong transcription	Fetal Muscle Leg	muscle
13	chr5:111498000-111505600	Strong transcription	Placenta	Placenta
14	chr5:111498200-111500600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:111498200-111502200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:111498200-111502600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:111498200-111502800	Strong transcription	Ovary	ovary
18	chr5:111498200-111502800	Strong transcription	HSMM	muscle
19	chr5:111498200-111504800	Strong transcription	Fetal Intestine Large	intestine
20	chr5:111498200-111504800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:111498200-111505000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr5:111498200-111505600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
24	chr5:111498400-111500600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:111498400-111500600	Strong transcription	Colonic Mucosa	Colon
26	chr5:111498400-111500600	Strong transcription	Gastric	stomach
27	chr5:111498400-111501000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:111498400-111501600	Strong transcription	NHDF-Ad	bronchial
29	chr5:111498400-111501800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:111498400-111502600	Strong transcription	HSMMtube	muscle
31	chr5:111498400-111502800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:111498400-111502800	Strong transcription	Brain Germinal Matrix	brain
33	chr5:111498400-111503600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:111498400-111504800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:111498400-111504800	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:111498400-111506000	Strong transcription	Left Ventricle	heart
37	chr5:111498400-111506400	Strong transcription	Fetal Kidney	kidney
38	chr5:111498400-111506800	Strong transcription	Adipose Nuclei	Adipose
39	chr5:111498600-111500800	Strong transcription	NHEK	skin
40	chr5:111498600-111501200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:111498600-111501400	Strong transcription	Spleen	Spleen
42	chr5:111498600-111502600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:111498600-111502600	Strong transcription	NHLF	lung
44	chr5:111498600-111503600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:111498600-111503800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:111498600-111503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:111498600-111504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:111498600-111504800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:111498600-111504800	Strong transcription	Thymus	Thymus
50	chr5:111498600-111505000	Strong transcription	Primary B cells from cord blood	blood

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