Variant report

Variant	rs58510761
Chromosome Location	chr1:211547366-211547367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211545301..211548171-chr1:211550242..211553201,2	K562	blood:
2	chr1:211544391..211549113-chr1:211554192..211558481,8	K562	blood:
3	chr1:211542319..211548394-chr1:211548704..211553201,8	K562	blood:
4	chr1:211546344..211548686-chr1:211564910..211567315,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RD3-1	chr1:211547334-211548284	ENSG00000251496

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10458470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10494935	0.83[ASN][1000 genomes]
rs10779551	0.84[EUR][1000 genomes]
rs10863885	0.84[EUR][1000 genomes]
rs11119714	0.84[EUR][1000 genomes]
rs11119717	0.84[EUR][1000 genomes]
rs11119720	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11119725	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11119727	0.83[ASN][1000 genomes]
rs11119731	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119733	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119734	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119737	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119738	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119740	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11577764	0.83[ASN][1000 genomes]
rs12027277	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12028306	1.00[EUR][1000 genomes]
rs12030854	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032988	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12033418	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12035966	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12039683	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12039915	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12041794	0.84[EUR][1000 genomes]
rs12042216	0.84[EUR][1000 genomes]
rs12046975	0.84[EUR][1000 genomes]
rs12065190	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12080561	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12085730	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12097572	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17017360	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17017401	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2175633	0.83[ASN][1000 genomes]
rs2289758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2920907	0.82[ASN][1000 genomes]
rs3738201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738202	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4443952	0.83[ASN][1000 genomes]
rs4951521	0.82[ASN][1000 genomes]
rs4951743	0.83[ASN][1000 genomes]
rs57093875	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58164259	1.00[EUR][1000 genomes]
rs60169087	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61624054	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6663729	0.83[ASN][1000 genomes]
rs6684356	0.82[ASN][1000 genomes]
rs6698113	0.83[ASN][1000 genomes]
rs6698191	0.83[ASN][1000 genomes]
rs7540368	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:211514800-211552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:211515000-211555000	Weak transcription	Hela-S3	cervix
4	chr1:211515000-211555800	Weak transcription	Esophagus	oesophagus
5	chr1:211515400-211548400	Weak transcription	Stomach Mucosa	stomach
6	chr1:211519400-211549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:211519800-211547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:211519800-211548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:211521200-211550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:211525400-211550200	Weak transcription	NHDF-Ad	bronchial
13	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
14	chr1:211525600-211548200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:211525600-211550200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:211526800-211550800	Weak transcription	Small Intestine	intestine
18	chr1:211527400-211550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:211528000-211551400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:211528200-211550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:211528400-211547600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:211528800-211554600	Weak transcription	Psoas Muscle	Psoas
23	chr1:211529400-211550400	Strong transcription	Fetal Thymus	thymus
24	chr1:211529600-211551200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:211530200-211555800	Weak transcription	Pancreas	Pancrea
26	chr1:211530400-211555200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:211530600-211548800	Weak transcription	Fetal Intestine Small	intestine
28	chr1:211530600-211550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:211530600-211555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:211531000-211551600	Weak transcription	NHLF	lung
31	chr1:211531200-211550000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:211531200-211550000	Weak transcription	HSMM	muscle
33	chr1:211533400-211550200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:211533400-211551200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:211533400-211552000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:211533800-211554800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:211534600-211547400	Weak transcription	HSMMtube	muscle
38	chr1:211534600-211555800	Weak transcription	Gastric	stomach
39	chr1:211535000-211549800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:211535000-211555000	Weak transcription	A549	lung
41	chr1:211535400-211555800	Weak transcription	Left Ventricle	heart
42	chr1:211537200-211551200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:211538800-211548200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:211539600-211550000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:211539800-211555400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:211540000-211548400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:211540000-211550600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:211540200-211547400	Weak transcription	Ovary	ovary
49	chr1:211540200-211547600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:211540400-211550400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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