Variant report

Variant	rs62137003
Chromosome Location	chr2:48569059-48569060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:48568784-48569236	A549	lung:	n/a	n/a
2	NR3C1	chr2:48568674-48569177	A549	lung:	n/a	n/a
3	NR3C1	chr2:48568660-48569198	A549	lung:	n/a	n/a
4	NR3C1	chr2:48568662-48569213	A549	lung:	n/a	n/a
5	POLR2A	chr2:48568650-48569103	HepG2	liver:	n/a	n/a
6	FOXA1	chr2:48568708-48569247	A549	lung:	n/a	n/a
7	NR3C1	chr2:48568844-48569143	A549	lung:	n/a	n/a
8	NR3C1	chr2:48568716-48569124	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48568069..48570400-chr2:48600787..48602390,2	K562	blood:
2	chr2:48568770..48570498-chr2:48574091..48575734,2	MCF-7	breast:
3	chr2:48568928..48571039-chr2:48579815..48581773,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU4-49P	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10153773	0.95[ASN][1000 genomes]
rs10174717	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10180295	0.88[ASN][1000 genomes]
rs10186237	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10193072	0.88[ASN][1000 genomes]
rs10199431	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10208124	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11676168	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682044	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11682931	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11685861	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11690690	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12616792	0.81[ASN][1000 genomes]
rs12713008	0.81[ASN][1000 genomes]
rs13003076	0.87[ASN][1000 genomes]
rs13383364	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13385535	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13386751	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13387171	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13388291	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13392004	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13426834	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13432998	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2471405	0.81[ASN][1000 genomes]
rs28806843	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28841370	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4290706	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4344965	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4411759	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4547573	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4641990	0.93[ASN][1000 genomes]
rs56163539	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56352447	0.92[ASN][1000 genomes]
rs57668696	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58660534	1.00[ASN][1000 genomes]
rs59264464	0.88[ASN][1000 genomes]
rs59412192	0.88[ASN][1000 genomes]
rs59761994	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60677957	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62136987	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62137001	1.00[ASN][1000 genomes]
rs62137002	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62137005	1.00[ASN][1000 genomes]
rs62137006	0.99[ASN][1000 genomes]
rs62137007	0.99[ASN][1000 genomes]
rs62137008	0.96[ASN][1000 genomes]
rs62137009	0.96[ASN][1000 genomes]
rs62137015	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62138801	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545027	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545028	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6545029	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6545030	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545034	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6545035	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6545036	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6712029	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6743757	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745580	0.93[AFR][1000 genomes]
rs6749773	0.85[AMR][1000 genomes]
rs6757206	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72818493	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72820405	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72887649	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7340322	0.81[ASN][1000 genomes]
rs7562069	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7562816	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7568960	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573316	0.83[AFR][1000 genomes]
rs7574125	0.91[ASN][1000 genomes]
rs7576964	0.83[AFR][1000 genomes]
rs7577237	0.82[AFR][1000 genomes]
rs7579932	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7600794	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7606104	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9309152	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:48544400-48570400	Weak transcription	NHEK	skin
3	chr2:48544400-48570800	Weak transcription	HMEC	breast
4	chr2:48548600-48570600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:48552400-48570600	Weak transcription	Aorta	Aorta
6	chr2:48553400-48574400	Weak transcription	Lung	lung
7	chr2:48553800-48570800	Weak transcription	Thymus	Thymus
8	chr2:48554400-48570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:48555400-48570600	Weak transcription	NHLF	lung
10	chr2:48556800-48570600	Weak transcription	Fetal Thymus	thymus
11	chr2:48556800-48571600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:48557000-48573200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:48557000-48573400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:48557800-48570400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:48558400-48571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:48558800-48571200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:48559000-48570600	Weak transcription	Left Ventricle	heart
18	chr2:48559000-48570600	Weak transcription	Spleen	Spleen
19	chr2:48559800-48570600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:48559800-48570600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:48559800-48573400	Weak transcription	Fetal Kidney	kidney
22	chr2:48559800-48573400	Weak transcription	Right Atrium	heart
23	chr2:48560600-48573600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:48561000-48571200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:48561600-48571400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:48561800-48571000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:48562000-48573400	Weak transcription	Psoas Muscle	Psoas
28	chr2:48562000-48573400	Weak transcription	K562	blood
29	chr2:48562200-48571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:48564800-48574400	Weak transcription	Fetal Stomach	stomach
31	chr2:48565200-48570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:48565200-48570800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:48565800-48570600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:48565800-48571800	Weak transcription	Fetal Intestine Small	intestine
35	chr2:48566000-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:48566200-48569200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:48566200-48570200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:48566200-48570600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:48566600-48569200	Enhancers	Primary T cells from cord blood	blood
40	chr2:48566600-48570200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:48566600-48573600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:48566800-48569800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:48566800-48570600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:48566800-48571000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:48567000-48570600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:48567200-48571400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:48567400-48570000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:48567400-48571000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:48567400-48571000	Enhancers	Brain Substantia Nigra	brain
50	chr2:48567600-48570800	Enhancers	Brain Cingulate Gyrus	brain

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