Variant report

Variant	rs60305852
Chromosome Location	chr2:179647823-179647824
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	chr2:179641847..179643988-chr2:179646458..179648017,2	K562	blood:
2	chr2:179647639..179651545-chr2:179652992..179655773,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10497522	0.94[ASN][1000 genomes]
rs10497524	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10497525	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884172	0.82[AFR][1000 genomes]
rs11887915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892354	0.94[ASN][1000 genomes]
rs11897386	0.91[ASN][1000 genomes]
rs11904138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693168	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552280	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872202	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1905521	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029396	1.00[EUR][1000 genomes]
rs2035496	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054706	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054707	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291301	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291302	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291303	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754949	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754950	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769859	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769862	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816781	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894049	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58025762	1.00[EUR][1000 genomes]
rs58152091	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61680869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719201	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648915	0.82[AFR][1000 genomes]
rs73040366	0.83[EUR][1000 genomes]
rs73973151	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179610800-179671400	Weak transcription	Ovary	ovary
4	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
8	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
9	chr2:179630600-179651000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:179631200-179649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:179634200-179648600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:179636200-179660600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:179637200-179651000	Strong transcription	Primary T cells from cord blood	blood
16	chr2:179637200-179651000	Strong transcription	HSMMtube	muscle
17	chr2:179639000-179672000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:179639400-179671400	Weak transcription	Gastric	stomach
19	chr2:179641800-179648800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:179642200-179650200	Weak transcription	Fetal Intestine Large	intestine
21	chr2:179642600-179653000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:179642800-179648800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:179644800-179655400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:179645600-179648800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:179645800-179648800	Weak transcription	Spleen	Spleen
26	chr2:179646000-179650000	Weak transcription	Psoas Muscle	Psoas
27	chr2:179646000-179650600	Strong transcription	Left Ventricle	heart
28	chr2:179646000-179657600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:179646000-179684800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:179646400-179650800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:179646400-179659400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:179646800-179648200	Strong transcription	Right Ventricle	heart
33	chr2:179646800-179651600	Genic enhancers	Fetal Heart	heart
34	chr2:179647000-179650600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:179647200-179648400	Strong transcription	HSMM	muscle
36	chr2:179647400-179649200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr2:179647600-179649000	Weak transcription	Right Atrium	heart
38	chr2:179647600-179650000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:179647600-179650600	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:179647800-179650000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:179647800-179650400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:179647800-179655400	Weak transcription	Pancreas	Pancrea
43	chr2:179647800-179658800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:179647800-179672000	Weak transcription	Fetal Thymus	thymus

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