Variant report

Variant	rs1548285
Chromosome Location	chr6:44975277-44975278
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	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1159132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1284956	0.91[EUR][1000 genomes]
rs1284957	0.83[EUR][1000 genomes]
rs1284959	0.97[EUR][1000 genomes]
rs1284963	0.86[EUR][1000 genomes]
rs1284970	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284976	0.86[EUR][1000 genomes]
rs1284977	0.86[EUR][1000 genomes]
rs1284978	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1284981	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284984	0.86[EUR][1000 genomes]
rs1284985	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284991	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284994	0.86[EUR][1000 genomes]
rs1284996	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1285001	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1285012	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1285015	0.97[EUR][1000 genomes]
rs1285017	0.97[EUR][1000 genomes]
rs1293582	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1329708	0.88[EUR][1000 genomes]
rs1360198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411150	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1475533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1475534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1536904	0.88[EUR][1000 genomes]
rs1536906	0.88[EUR][1000 genomes]
rs1576380	0.88[EUR][1000 genomes]
rs1576381	0.85[EUR][1000 genomes]
rs1625102	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1629619	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1630758	0.86[EUR][1000 genomes]
rs1632504	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1640767	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1748246	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1797155	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1797157	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1797160	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1797162	0.86[EUR][1000 genomes]
rs2183295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2396368	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2396378	0.81[EUR][1000 genomes]
rs2461017	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3997494	0.84[EUR][1000 genomes]
rs4711808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4711811	0.97[EUR][1000 genomes]
rs4711812	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4714835	0.88[EUR][1000 genomes]
rs480657	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs481914	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs482878	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs490515	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs510167	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs519122	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs522282	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs527145	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs528158	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs538857	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs539002	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs540247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542910	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs549243	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs551338	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs551955	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs553811	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs556352	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55641	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs557425	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs560765	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs563708	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs564286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569999	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs588813	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs589285	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs592240	0.88[EUR][1000 genomes]
rs603778	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs604040	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs604486	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs604873	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs609571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs622051	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs625782	0.88[EUR][1000 genomes]
rs6458416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs649617	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs652851	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs655669	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs656463	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs662599	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs669087	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs685327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs686938	0.82[EUR][1000 genomes]
rs6902685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6912845	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7739872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857598	0.86[EUR][1000 genomes]
rs857604	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9357463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357465	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9357468	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9369525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9369527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9381355	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9381363	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9472429	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2757164	chr6:44953758-44989519	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44951200-44980800	Weak transcription	Aorta	Aorta
2	chr6:44964600-44981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:44965600-44978600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:44966400-44993600	Weak transcription	HepG2	liver
7	chr6:44969600-44979600	Weak transcription	Ovary	ovary
8	chr6:44970600-44979800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:44971400-44979600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:44971400-44980400	Weak transcription	Dnd41	blood
13	chr6:44971400-44988800	Weak transcription	Primary T cells from cord blood	blood
14	chr6:44972000-44983800	Weak transcription	Adipose Nuclei	Adipose
15	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:44975000-44983800	Weak transcription	Brain Anterior Caudate	brain

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