Variant report

Variant	rs60147627
Chromosome Location	chr13:50936129-50936130
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	chr13:50697261..50699908-chr13:50935542..50937568,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1149854	1.00[EUR][1000 genomes]
rs1149855	1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs2762044	1.00[EUR][1000 genomes]
rs2762062	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs55987657	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56222340	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs57723811	1.00[EUR][1000 genomes]
rs57938299	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58214088	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58521176	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58911842	1.00[EUR][1000 genomes]
rs59137919	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59568046	0.87[AFR][1000 genomes]
rs59729773	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59951137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61495306	1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7324132	1.00[EUR][1000 genomes]
rs7337343	1.00[EUR][1000 genomes]
rs73483957	1.00[EUR][1000 genomes]
rs73483973	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498030	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs73498091	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498093	1.00[EUR][1000 genomes]
rs73498096	1.00[EUR][1000 genomes]
rs73500213	1.00[EUR][1000 genomes]
rs73500225	1.00[EUR][1000 genomes]
rs73500236	1.00[EUR][1000 genomes]
rs73500241	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500267	0.87[AFR][1000 genomes]
rs73500270	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500278	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73500279	1.00[EUR][1000 genomes]
rs73500287	1.00[EUR][1000 genomes]
rs73500290	1.00[EUR][1000 genomes]
rs73500300	1.00[EUR][1000 genomes]
rs73500302	1.00[EUR][1000 genomes]
rs73502108	1.00[EUR][1000 genomes]
rs73502118	1.00[EUR][1000 genomes]
rs73502137	1.00[EUR][1000 genomes]
rs74079205	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74079217	1.00[EUR][1000 genomes]
rs74079242	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7990648	1.00[EUR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]
rs9591331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv976114	chr13:50935447-50940164	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50930200-50939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr13:50930200-50939600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:50931600-50939000	Weak transcription	HepG2	liver
4	chr13:50932000-50940800	Weak transcription	Small Intestine	intestine
5	chr13:50932400-50936200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr13:50932400-50936200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:50932400-50936400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:50932800-50936200	Weak transcription	Fetal Brain Female	brain
9	chr13:50932800-50939400	Weak transcription	Gastric	stomach
10	chr13:50932800-50939400	Weak transcription	Pancreas	Pancrea
11	chr13:50932800-50939600	Weak transcription	Fetal Kidney	kidney
12	chr13:50933200-50936600	Weak transcription	Fetal Heart	heart
13	chr13:50933200-50939200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:50933400-50939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:50933400-50944600	Weak transcription	Fetal Lung	lung
16	chr13:50933800-50944000	Weak transcription	Primary B cells from cord blood	blood
17	chr13:50934000-50939600	Weak transcription	Brain Germinal Matrix	brain
18	chr13:50934600-50942000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr13:50935000-50939400	Weak transcription	Fetal Thymus	thymus
20	chr13:50935200-50936800	Enhancers	Liver	Liver
21	chr13:50935400-50936200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr13:50935600-50936200	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:50935800-50936200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:50935800-50936200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:50935800-50936200	Enhancers	Spleen	Spleen
26	chr13:50935800-50936400	Enhancers	Fetal Muscle Leg	muscle
27	chr13:50935800-50936400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr13:50936000-50936800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:50936000-50936800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:50936000-50939000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr13:50936000-50939000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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