Variant report

Variant	rs2365741
Chromosome Location	chr1:62493677-62493678
allele	A/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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12098048	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1332630	0.94[ASN][1000 genomes]
rs1332633	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412621	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183996	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476181	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2476185	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2498981	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2498982	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4072368	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4316389	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4915602	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6689358	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7515090	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517333	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7520924	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7526522	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537239	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7537323	0.89[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	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
3	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
4	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:62459200-62511200	Weak transcription	Gastric	stomach
8	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:62459400-62493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62459600-62494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:62460200-62516000	Weak transcription	HMEC	breast
15	chr1:62466400-62494200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
18	chr1:62479400-62496000	Weak transcription	Fetal Kidney	kidney
19	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:62484600-62493800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:62484600-62494400	Weak transcription	Liver	Liver
24	chr1:62484600-62506000	Weak transcription	NHEK	skin
25	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:62485000-62494000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:62488000-62498000	Weak transcription	Fetal Heart	heart
29	chr1:62488400-62494200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:62488400-62494600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:62488400-62494600	Weak transcription	Brain Germinal Matrix	brain
32	chr1:62488400-62497600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:62488400-62497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:62488400-62521200	Weak transcription	Ovary	ovary
35	chr1:62488600-62494400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:62488600-62494400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:62488600-62499000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:62490600-62499200	Weak transcription	Right Atrium	heart
39	chr1:62491800-62499200	Weak transcription	Left Ventricle	heart
40	chr1:62491800-62511200	Weak transcription	Psoas Muscle	Psoas
41	chr1:62492400-62496200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:62492600-62494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:62492600-62494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:62492800-62494400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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