Variant report

Variant	rs487673
Chromosome Location	chr6:74351030-74351031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74346879..74348576-chr6:74350404..74352276,2	K562	blood:
2	chr6:74344506..74346128-chr6:74349882..74352388,2	K562	blood:
3	chr6:74228585..74234219-chr6:74347721..74351601,8	MCF-7	breast:
4	chr6:74232318..74233861-chr6:74350172..74351922,2	K562	blood:
5	chr6:74348994..74351945-chr6:74353963..74356232,2	K562	blood:
6	chr6:74349347..74351323-chr6:74352268..74354035,2	MCF-7	breast:
7	chr6:74345173..74346688-chr6:74350244..74351870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs12177538	0.82[ASN][1000 genomes]
rs12192512	0.95[ASN][1000 genomes]
rs12212323	0.95[ASN][1000 genomes]
rs12212380	0.87[ASN][1000 genomes]
rs1245333	0.88[ASN][1000 genomes]
rs1303141	0.87[ASN][1000 genomes]
rs16883973	0.82[ASN][1000 genomes]
rs16883979	0.82[ASN][1000 genomes]
rs1691343	0.95[ASN][1000 genomes]
rs1691344	0.94[ASN][1000 genomes]
rs1691345	0.80[AFR][1000 genomes]
rs1691347	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1691348	0.94[AFR][1000 genomes]
rs1691350	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1703461	0.84[ASN][1000 genomes]
rs1703463	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1703464	0.82[ASN][1000 genomes]
rs1703467	0.84[EUR][1000 genomes]
rs1741889	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1741891	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1741898	0.95[ASN][1000 genomes]
rs2500219	0.84[EUR][1000 genomes]
rs382038	0.86[AFR][1000 genomes]
rs382041	0.88[ASN][1000 genomes]
rs3846751	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs395996	0.88[ASN][1000 genomes]
rs4032316	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs428944	0.88[ASN][1000 genomes]
rs435132	0.87[ASN][1000 genomes]
rs472294	0.82[ASN][1000 genomes]
rs473473	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs475459	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs475461	0.83[AFR][1000 genomes]
rs476838	0.80[ASN][1000 genomes]
rs476996	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs478301	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs478836	0.93[ASN][1000 genomes]
rs480714	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs480871	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs484067	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs485802	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs487490	0.82[ASN][1000 genomes]
rs490454	0.84[ASN][1000 genomes]
rs493068	0.84[ASN][1000 genomes]
rs494807	0.84[ASN][1000 genomes]
rs494841	0.84[ASN][1000 genomes]
rs498907	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs498990	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5007648	0.82[ASN][1000 genomes]
rs518566	0.82[ASN][1000 genomes]
rs520589	0.84[ASN][1000 genomes]
rs527606	0.84[ASN][1000 genomes]
rs534211	0.82[ASN][1000 genomes]
rs546134	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs549852	0.94[AFR][1000 genomes]
rs549892	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs555957	0.82[ASN][1000 genomes]
rs558839	0.84[ASN][1000 genomes]
rs560386	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs560797	0.95[ASN][1000 genomes]
rs562131	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs562557	0.82[ASN][1000 genomes]
rs564364	0.82[ASN][1000 genomes]
rs565836	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs567200	0.82[ASN][1000 genomes]
rs57315094	0.82[ASN][1000 genomes]
rs573753	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs583149	0.82[ASN][1000 genomes]
rs584034	0.84[EUR][1000 genomes]
rs58417654	0.82[ASN][1000 genomes]
rs584571	0.82[ASN][1000 genomes]
rs58783392	0.82[ASN][1000 genomes]
rs598121	0.82[ASN][1000 genomes]
rs605567	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs612800	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs615052	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs615956	0.86[AFR][1000 genomes]
rs622967	0.84[ASN][1000 genomes]
rs628038	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs629381	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636605	0.84[ASN][1000 genomes]
rs642651	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs643653	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs664953	0.81[EUR][1000 genomes]
rs676704	0.82[ASN][1000 genomes]
rs676952	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs677073	0.82[ASN][1000 genomes]
rs678054	0.82[ASN][1000 genomes]
rs680391	0.82[ASN][1000 genomes]
rs685491	0.82[ASN][1000 genomes]
rs687210	0.80[ASN][1000 genomes]
rs6930178	0.82[ASN][1000 genomes]
rs6930465	0.82[ASN][1000 genomes]
rs6940526	0.82[ASN][1000 genomes]
rs6940886	0.82[ASN][1000 genomes]
rs71542212	0.82[ASN][1000 genomes]
rs7449500	0.82[AFR][1000 genomes]
rs7739206	0.82[ASN][1000 genomes]
rs7747069	0.84[ASN][1000 genomes]
rs7758825	0.82[ASN][1000 genomes]
rs7759157	0.82[ASN][1000 genomes]
rs7764560	0.84[ASN][1000 genomes]
rs7764768	0.82[ASN][1000 genomes]
rs7764983	0.84[ASN][1000 genomes]
rs9293932	0.84[ASN][1000 genomes]
rs9293933	0.84[ASN][1000 genomes]
rs9442931	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9442932	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9442933	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9442934	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9446952	0.82[ASN][1000 genomes]
rs9446953	0.82[ASN][1000 genomes]
rs9446954	0.82[ASN][1000 genomes]
rs9446955	0.82[ASN][1000 genomes]
rs9446957	0.82[ASN][1000 genomes]
rs9446958	0.82[ASN][1000 genomes]
rs9446961	0.82[ASN][1000 genomes]
rs9446962	0.82[ASN][1000 genomes]
rs9446964	0.84[ASN][1000 genomes]
rs9446966	0.84[ASN][1000 genomes]
rs9446972	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
8	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
4	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
5	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
10	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
14	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
17	chr6:74324800-74361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:74325000-74354800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:74325000-74355200	Weak transcription	HSMM	muscle
20	chr6:74325200-74355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
22	chr6:74334000-74353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:74335200-74352400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:74335600-74352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:74335600-74352600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:74336800-74352200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:74336800-74352600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:74337000-74352400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:74337200-74352800	Strong transcription	Fetal Intestine Large	intestine
30	chr6:74337400-74352600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:74337600-74352000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:74339200-74362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:74341000-74355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:74341400-74355000	Weak transcription	Aorta	Aorta
35	chr6:74341400-74355000	Weak transcription	Ovary	ovary
36	chr6:74341400-74360400	Weak transcription	HepG2	liver
37	chr6:74341600-74352000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:74341600-74362800	Weak transcription	Esophagus	oesophagus
39	chr6:74341600-74362800	Weak transcription	Gastric	stomach
40	chr6:74341800-74354600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:74341800-74354800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:74341800-74355000	Weak transcription	Brain Angular Gyrus	brain
43	chr6:74341800-74362600	Weak transcription	Brain Substantia Nigra	brain
44	chr6:74342000-74362800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:74342400-74352600	Strong transcription	Liver	Liver
46	chr6:74342400-74362800	Weak transcription	Lung	lung
47	chr6:74342400-74362800	Weak transcription	Spleen	Spleen
48	chr6:74342600-74354800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:74343200-74354800	Weak transcription	Brain Germinal Matrix	brain
50	chr6:74343200-74362600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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