Variant report

Variant	rs73522612
Chromosome Location	chr6:106647751-106647752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:106636057..106638777-chr6:106646225..106649180,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484575	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11754416	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11756379	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11756420	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11759048	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11760170	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11961415	0.92[ASN][1000 genomes]
rs1623780	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624009	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1624701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626224	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626503	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1627312	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17488854	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17513225	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766192	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766196	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1766199	0.92[ASN][1000 genomes]
rs1766200	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1766205	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1769962	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769963	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769964	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769968	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1769970	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769971	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769972	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769974	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769975	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1769978	0.85[ASN][1000 genomes]
rs1769981	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832408	0.89[ASN][1000 genomes]
rs2743560	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2743562	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2743563	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2743564	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2757132	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2757133	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763210	0.92[ASN][1000 genomes]
rs2763211	0.92[ASN][1000 genomes]
rs2763212	0.92[ASN][1000 genomes]
rs2763214	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763215	0.92[ASN][1000 genomes]
rs2763216	0.92[ASN][1000 genomes]
rs2763217	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2763218	0.92[ASN][1000 genomes]
rs2763221	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787521	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787525	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787526	0.85[AFR][1000 genomes]
rs2787527	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787528	0.92[ASN][1000 genomes]
rs2787529	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2787530	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787531	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787535	0.92[ASN][1000 genomes]
rs2787536	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787538	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2787539	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787540	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787543	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787544	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787545	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787546	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787547	0.92[ASN][1000 genomes]
rs2787548	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787549	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787551	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787552	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787553	0.92[ASN][1000 genomes]
rs2791114	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2791116	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2853338	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2853340	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827647	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41292420	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4310087	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4607457	0.89[ASN][1000 genomes]
rs543465	0.92[ASN][1000 genomes]
rs577707	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595875	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs626664	0.92[ASN][1000 genomes]
rs676099	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs687709	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920944	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6930834	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73520690	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522605	0.85[AFR][1000 genomes]
rs73522606	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522607	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73522610	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522614	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522618	0.89[AFR][1000 genomes]
rs73522619	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522625	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73522642	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73522648	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs796707	0.92[ASN][1000 genomes]
rs960323	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 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	chr6:106616400-106654200	Weak transcription	Aorta	Aorta
3	chr6:106625800-106648400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:106625800-106651800	Weak transcription	Esophagus	oesophagus
5	chr6:106625800-106652800	Weak transcription	Brain Germinal Matrix	brain
6	chr6:106626800-106674800	Weak transcription	K562	blood
7	chr6:106628000-106659200	Weak transcription	HepG2	liver
8	chr6:106628400-106675200	Weak transcription	Stomach Mucosa	stomach
9	chr6:106628600-106647800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:106628800-106648000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:106628800-106671200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:106629800-106648000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:106629800-106652000	Weak transcription	Placenta	Placenta
14	chr6:106630000-106654600	Weak transcription	Hela-S3	cervix
15	chr6:106630600-106647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:106630600-106654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:106630800-106651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:106631400-106652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:106632000-106664600	Weak transcription	Psoas Muscle	Psoas
20	chr6:106632200-106659400	Weak transcription	Right Ventricle	heart
21	chr6:106632400-106649600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:106632800-106647800	Weak transcription	Ovary	ovary
23	chr6:106632800-106650400	Weak transcription	Fetal Stomach	stomach
24	chr6:106633000-106650200	Weak transcription	Gastric	stomach
25	chr6:106633400-106650600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:106633400-106662000	Weak transcription	Fetal Lung	lung
27	chr6:106634400-106648200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:106634400-106650400	Weak transcription	Lung	lung
29	chr6:106634400-106654800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:106634400-106657000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:106634600-106648600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:106634600-106650200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:106634600-106653400	Weak transcription	Fetal Intestine Large	intestine
34	chr6:106634800-106648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:106635800-106650400	Weak transcription	A549	lung
36	chr6:106635800-106653000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:106636400-106649000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:106636800-106656800	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:106643400-106647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:106643400-106649000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:106643400-106650000	Weak transcription	Small Intestine	intestine
42	chr6:106643400-106652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:106643400-106654600	Weak transcription	Thymus	Thymus
44	chr6:106643600-106659600	Weak transcription	Fetal Kidney	kidney
45	chr6:106643800-106649000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:106643800-106658800	Weak transcription	HSMMtube	muscle
47	chr6:106644000-106652200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:106644000-106661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:106644200-106652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:106644400-106652400	Weak transcription	GM12878-XiMat	blood

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