Variant report

Variant	rs73498091
Chromosome Location	chr13:50932992-50932993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50929110..50931942-chr13:50932169..50935113,3	MCF-7	breast:
2	chr13:50931295..50934143-chr13:50939870..50941977,3	MCF-7	breast:
3	chr13:50931287..50933893-chr13:50934421..50935929,2	MCF-7	breast:
4	chr13:50648474..50650131-chr13:50932014..50934114,2	K562	blood:
5	chr13:50699179..50702068-chr13:50931716..50934137,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction
ENSG00000223676	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

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	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	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58521176	0.83[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]
rs59729773	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59951137	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60147627	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61382687	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	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73498061	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	1.00[EUR][1000 genomes]
rs73500242	1.00[EUR][1000 genomes]
rs73500246	1.00[EUR][1000 genomes]
rs73500250	1.00[EUR][1000 genomes]
rs73500259	1.00[EUR][1000 genomes]
rs73500262	1.00[EUR][1000 genomes]
rs73500270	1.00[EUR][1000 genomes]
rs73500278	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	0.83[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:4 , 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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50926600-50933000	Enhancers	Liver	Liver
2	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50929200-50934200	Weak transcription	Lung	lung
4	chr13:50929200-50934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50929800-50933800	Weak transcription	Primary T cells from cord blood	blood
6	chr13:50930000-50935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:50930200-50933600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:50930200-50939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:50930200-50939600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:50930800-50933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:50930800-50934000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:50930800-50935000	Enhancers	Fetal Thymus	thymus
13	chr13:50931000-50933000	Enhancers	Fetal Muscle Leg	muscle
14	chr13:50931000-50933200	Enhancers	Fetal Heart	heart
15	chr13:50931000-50933400	Enhancers	Fetal Lung	lung
16	chr13:50931200-50933000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:50931200-50933000	Enhancers	NH-A	brain
18	chr13:50931200-50933200	Enhancers	Brain Hippocampus Middle	brain
19	chr13:50931200-50933400	Enhancers	Colon Smooth Muscle	Colon
20	chr13:50931200-50933600	Enhancers	Rectal Smooth Muscle	rectum
21	chr13:50931400-50933000	Enhancers	Left Ventricle	heart
22	chr13:50931400-50933000	Enhancers	Psoas Muscle	Psoas
23	chr13:50931400-50933200	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:50931400-50933400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr13:50931600-50933200	Enhancers	Brain Substantia Nigra	brain
26	chr13:50931600-50939000	Weak transcription	HepG2	liver
27	chr13:50931800-50934000	Enhancers	Brain Germinal Matrix	brain
28	chr13:50932000-50933000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr13:50932000-50933200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:50932000-50933200	Enhancers	Stomach Smooth Muscle	stomach
31	chr13:50932000-50934400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:50932000-50940800	Weak transcription	Small Intestine	intestine
33	chr13:50932200-50933000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50932200-50933400	Enhancers	Brain Angular Gyrus	brain
35	chr13:50932200-50933400	Enhancers	Brain Anterior Caudate	brain
36	chr13:50932200-50934000	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:50932200-50934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:50932400-50933200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr13:50932400-50933800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr13:50932400-50933800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr13:50932400-50934600	Enhancers	Thymus	Thymus
42	chr13:50932400-50936200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr13:50932400-50936200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr13:50932400-50936400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:50932600-50933000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr13:50932600-50933400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr13:50932600-50933400	Enhancers	Fetal Muscle Trunk	muscle
48	chr13:50932600-50933800	Enhancers	Primary B cells from cord blood	blood
49	chr13:50932600-50933800	Bivalent Enhancer	GM12878-XiMat	blood
50	chr13:50932800-50933000	Weak transcription	Rectal Mucosa Donor 31	rectum

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