Variant report

Variant	rs73520690
Chromosome Location	chr6:106630148-106630149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10484575	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11754416	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756379	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759048	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11760170	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11961415	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1623780	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624009	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624701	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626503	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627312	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17488854	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513225	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766192	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766199	0.96[ASN][1000 genomes]
rs1766200	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766205	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1769962	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769963	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769968	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769972	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769974	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769975	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769978	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1769981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832408	0.92[ASN][1000 genomes]
rs2743560	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743563	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757132	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757133	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763210	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763211	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763212	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763214	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763215	0.96[ASN][1000 genomes]
rs2763216	0.96[ASN][1000 genomes]
rs2763217	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2763218	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763221	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787525	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787526	0.87[AFR][1000 genomes]
rs2787527	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787528	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2787529	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787531	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787535	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787536	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787538	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787539	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787540	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787543	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787544	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787545	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787546	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787547	0.96[ASN][1000 genomes]
rs2787548	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787549	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787551	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787552	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787553	0.96[ASN][1000 genomes]
rs2791114	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2791116	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2853340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827647	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292420	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4310087	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607457	0.92[ASN][1000 genomes]
rs543465	0.96[ASN][1000 genomes]
rs577707	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595875	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626664	0.96[ASN][1000 genomes]
rs676099	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920944	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6930834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522605	0.87[AFR][1000 genomes]
rs73522606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522607	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522612	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522618	0.91[AFR][1000 genomes]
rs73522619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522642	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522648	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796707	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960323	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106612400-106662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:106613200-106633400	Weak transcription	Primary B cells from cord blood	blood
3	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
4	chr6:106623600-106633400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:106625600-106638400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:106625600-106642000	Weak transcription	Small Intestine	intestine
7	chr6:106625800-106648400	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:106625800-106651800	Weak transcription	Esophagus	oesophagus
9	chr6:106625800-106652800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:106626000-106633600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:106626000-106637600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:106626200-106630200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:106626600-106645000	Weak transcription	Fetal Heart	heart
14	chr6:106626800-106633600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:106626800-106674800	Weak transcription	K562	blood
16	chr6:106627000-106633800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:106627200-106634000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:106627200-106634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:106627200-106643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:106628000-106659200	Weak transcription	HepG2	liver
21	chr6:106628200-106634200	Weak transcription	Dnd41	blood
22	chr6:106628400-106642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
24	chr6:106628600-106633200	Weak transcription	Primary T cells from cord blood	blood
25	chr6:106628600-106647800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:106628800-106633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr6:106628800-106634000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:106628800-106648000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
30	chr6:106629000-106631000	Enhancers	Osteobl	bone
31	chr6:106629000-106634000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:106629000-106634000	Weak transcription	Fetal Intestine Large	intestine
33	chr6:106629200-106630200	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:106629200-106630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:106629200-106630600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:106629200-106630600	Enhancers	HSMMtube	muscle
37	chr6:106629200-106630800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:106629200-106631000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:106629200-106631800	Enhancers	NHDF-Ad	bronchial
40	chr6:106629200-106633400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:106629200-106633600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:106629200-106634000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:106629400-106630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:106629400-106630600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:106629400-106630600	Enhancers	HMEC	breast
46	chr6:106629400-106630600	Enhancers	HSMM	muscle
47	chr6:106629400-106630600	Enhancers	NHLF	lung
48	chr6:106629400-106630800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:106629400-106630800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:106629400-106630800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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