Variant report

Variant	rs56794415
Chromosome Location	chr13:50505774-50505775
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50503635..50507616-chr13:50508303..50511854,6	K562	blood:
2	chr13:50503267..50506681-chr13:50507802..50511782,3	K562	blood:
3	chr13:50504120..50506142-chr19:54703000..54704992,2	K562	blood:

Variant related genes	Relation type
ENSG00000123178	Chromatin interaction
ENSG00000223660	Chromatin interaction
ENSG00000170889	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2472595	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs58364236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58438849	1.00[EUR][1000 genomes]
rs58450365	1.00[EUR][1000 genomes]
rs59609469	1.00[EUR][1000 genomes]
rs60016474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61384266	1.00[AMR][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]
rs7323645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329205	0.84[AFR][1000 genomes]
rs7330228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7992306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv1851738	chr13:50474326-50507944	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv976235	chr13:50501048-50509556	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50479600-50508600	Weak transcription	K562	blood
2	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
3	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
4	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
5	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
7	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:50485800-50506200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:50485800-50509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:50486000-50509400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:50486400-50509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr13:50486600-50508800	Weak transcription	Hela-S3	cervix
13	chr13:50487400-50509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:50487600-50509400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr13:50488400-50509600	Weak transcription	Colonic Mucosa	Colon
16	chr13:50489200-50509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:50489200-50510000	Weak transcription	Spleen	Spleen
18	chr13:50490800-50506200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:50491200-50507000	Weak transcription	Brain Angular Gyrus	brain
20	chr13:50492200-50509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:50492400-50509600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr13:50492600-50508800	Weak transcription	HUVEC	blood vessel
23	chr13:50492800-50509400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:50492800-50509600	Weak transcription	Aorta	Aorta
25	chr13:50493400-50509400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:50493800-50509600	Weak transcription	Lung	lung
27	chr13:50494200-50508800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:50494400-50508800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:50495400-50509600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:50495800-50508400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr13:50495800-50508800	Weak transcription	Brain Substantia Nigra	brain
32	chr13:50495800-50508800	Weak transcription	Fetal Brain Female	brain
33	chr13:50495800-50508800	Weak transcription	HepG2	liver
34	chr13:50496000-50506600	Weak transcription	NHLF	lung
35	chr13:50496000-50507000	Weak transcription	Psoas Muscle	Psoas
36	chr13:50497400-50509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:50497600-50505800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:50497800-50505800	Strong transcription	Placenta	Placenta
39	chr13:50499000-50508800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:50499000-50509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:50499400-50506800	Weak transcription	Brain Germinal Matrix	brain
42	chr13:50499600-50509600	Weak transcription	Esophagus	oesophagus
43	chr13:50500000-50509400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr13:50500000-50509800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:50500400-50508800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr13:50500400-50508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50500400-50508800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:50500400-50508800	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:50500600-50509200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:50500800-50508800	Weak transcription	GM12878-XiMat	blood

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