Variant report

Variant	rs1537316
Chromosome Location	chr1:62494861-62494862
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	chr1:62488087..62490869-chr1:62492445..62494953,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10489968	1.00[ASN][1000 genomes]
rs11207912	1.00[ASN][1000 genomes]
rs1123777	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582438	1.00[ASN][1000 genomes]
rs11584978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072694	1.00[ASN][1000 genomes]
rs12072734	1.00[ASN][1000 genomes]
rs12076492	0.86[EUR][1000 genomes]
rs12091611	1.00[ASN][1000 genomes]
rs1332632	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1537317	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17122925	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122938	0.83[EUR][1000 genomes]
rs17122991	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123017	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17313153	1.00[ASN][1000 genomes]
rs17385742	1.00[ASN][1000 genomes]
rs2067882	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2365985	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2457813	1.00[ASN][1000 genomes]
rs2457818	1.00[ASN][1000 genomes]
rs2457824	1.00[ASN][1000 genomes]
rs34050378	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3762449	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41313250	1.00[ASN][1000 genomes]
rs41394744	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4456123	1.00[ASN][1000 genomes]
rs4915790	1.00[ASN][1000 genomes]
rs4915791	1.00[ASN][1000 genomes]
rs4915792	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915793	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915794	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178450	1.00[ASN][1000 genomes]
rs58604849	1.00[ASN][1000 genomes]
rs59354521	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61313871	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61775625	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775627	0.84[EUR][1000 genomes]
rs61775628	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61775631	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775652	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775653	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775654	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775655	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775656	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775657	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61775658	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61775659	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61775681	1.00[ASN][1000 genomes]
rs61775682	1.00[ASN][1000 genomes]
rs61777667	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61777685	1.00[ASN][1000 genomes]
rs61777687	1.00[ASN][1000 genomes]
rs61777734	1.00[ASN][1000 genomes]
rs61777736	1.00[ASN][1000 genomes]
rs6587957	1.00[ASN][1000 genomes]
rs6660262	0.84[EUR][1000 genomes]
rs6660358	0.83[EUR][1000 genomes]
rs6695442	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6697095	1.00[ASN][1000 genomes]
rs6697273	0.84[EUR][1000 genomes]
rs72676267	1.00[ASN][1000 genomes]
rs72676271	1.00[ASN][1000 genomes]
rs72676275	1.00[ASN][1000 genomes]
rs72676286	1.00[ASN][1000 genomes]
rs72677937	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72919758	1.00[ASN][1000 genomes]
rs72921841	1.00[ASN][1000 genomes]
rs7528797	0.89[EUR][1000 genomes]
rs7534748	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv945803	chr1:62490443-62495121	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
2	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:62459200-62511200	Weak transcription	Gastric	stomach
6	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:62460200-62516000	Weak transcription	HMEC	breast
11	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
13	chr1:62479400-62496000	Weak transcription	Fetal Kidney	kidney
14	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:62484600-62506000	Weak transcription	NHEK	skin
18	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:62488000-62498000	Weak transcription	Fetal Heart	heart
21	chr1:62488400-62497600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:62488400-62497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:62488400-62521200	Weak transcription	Ovary	ovary
24	chr1:62488600-62499000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:62490600-62499200	Weak transcription	Right Atrium	heart
26	chr1:62491800-62499200	Weak transcription	Left Ventricle	heart
27	chr1:62491800-62511200	Weak transcription	Psoas Muscle	Psoas
28	chr1:62492400-62496200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:62494200-62495000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr1:62494200-62495000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr1:62494200-62495000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr1:62494200-62495200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:62494400-62495000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr1:62494400-62495200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:62494400-62495200	ZNF genes & repeats	Liver	Liver
36	chr1:62494600-62495000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr1:62494600-62504600	Weak transcription	Aorta	Aorta
38	chr1:62494600-62511200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:62494600-62524400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:62494600-62524400	Weak transcription	Esophagus	oesophagus
41	chr1:62494800-62497800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:62494800-62498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:62494800-62498600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:62494800-62505200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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