Variant report

Variant	rs1262863
Chromosome Location	chr13:50933662-50933663
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
ENSG00000223676	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1149851	0.88[EUR][1000 genomes]
rs1149852	0.88[EUR][1000 genomes]
rs1149853	0.85[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1149857	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1149859	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1149860	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1149866	0.82[EUR][1000 genomes]
rs1149870	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1262862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262864	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1262867	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1269266	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1269268	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1269269	0.84[AFR][1000 genomes]
rs1269274	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1269276	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1269278	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1269281	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1319883	0.80[AFR][1000 genomes]
rs1886200	0.88[EUR][1000 genomes]
rs1924370	0.81[EUR][1000 genomes]
rs2532964	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2762043	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2762065	0.88[EUR][1000 genomes]
rs2812213	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2812215	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs752213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912416	0.90[ASN][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:50929200-50934200	Weak transcription	Lung	lung
3	chr13:50929200-50934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50929800-50933800	Weak transcription	Primary T cells from cord blood	blood
5	chr13:50930000-50935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:50930200-50939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:50930200-50939600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:50930800-50933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:50930800-50934000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:50930800-50935000	Enhancers	Fetal Thymus	thymus
11	chr13:50931600-50939000	Weak transcription	HepG2	liver
12	chr13:50931800-50934000	Enhancers	Brain Germinal Matrix	brain
13	chr13:50932000-50934400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:50932000-50940800	Weak transcription	Small Intestine	intestine
15	chr13:50932200-50934000	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:50932200-50934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:50932400-50933800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr13:50932400-50933800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr13:50932400-50934600	Enhancers	Thymus	Thymus
20	chr13:50932400-50936200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr13:50932400-50936200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr13:50932400-50936400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:50932600-50933800	Enhancers	Primary B cells from cord blood	blood
24	chr13:50932600-50933800	Bivalent Enhancer	GM12878-XiMat	blood
25	chr13:50932800-50934200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:50932800-50934200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr13:50932800-50934800	Weak transcription	Dnd41	blood
28	chr13:50932800-50935800	Weak transcription	Spleen	Spleen
29	chr13:50932800-50936200	Weak transcription	Fetal Brain Female	brain
30	chr13:50932800-50939400	Weak transcription	Gastric	stomach
31	chr13:50932800-50939400	Weak transcription	Pancreas	Pancrea
32	chr13:50932800-50939600	Weak transcription	Fetal Kidney	kidney
33	chr13:50933000-50935200	Weak transcription	Liver	Liver
34	chr13:50933000-50935200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:50933000-50935800	Weak transcription	Fetal Muscle Leg	muscle
36	chr13:50933000-50935800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:50933000-50936000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:50933200-50934600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr13:50933200-50936600	Weak transcription	Fetal Heart	heart
40	chr13:50933200-50939200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:50933400-50934400	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:50933400-50934800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr13:50933400-50935200	Weak transcription	Brain Anterior Caudate	brain
44	chr13:50933400-50939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:50933400-50944600	Weak transcription	Fetal Lung	lung
46	chr13:50933600-50934000	Enhancers	Primary T helper cells fromperipheralblood	blood

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