Variant report

Variant	rs201785
Chromosome Location	chr13:50997737-50997738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50991815..50995325-chr13:50995340..50998331,4	K562	blood:
2	chr13:50984531..50986156-chr13:50996985..50999573,2	K562	blood:
3	chr13:50987349..50990834-chr13:50994333..50998319,5	K562	blood:
4	chr13:50571194..50572994-chr13:50995183..50997968,2	K562	blood:
5	chr13:50995789..50999098-chr13:50999435..51002324,3	K562	blood:
6	chr13:50987523..50990101-chr13:50994967..50998319,3	K562	blood:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs200221	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200226	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201774	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201775	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs201779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201787	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201788	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs201791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532978	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369471	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs55804586	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810037	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901275	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222244	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59065901	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50992200-51014600	Weak transcription	HepG2	liver
2	chr13:50993400-50997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:50993400-50998600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:50994000-50997800	Enhancers	HSMMtube	muscle
5	chr13:50994000-51002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:50994400-50999800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr13:50994400-51001200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:50995000-50998400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:50995200-51000000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr13:50995400-50998600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:50995600-50997800	Enhancers	Fetal Kidney	kidney
12	chr13:50995600-50998800	Enhancers	Brain Germinal Matrix	brain
13	chr13:50996000-50997800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:50996000-51001600	Enhancers	K562	blood
15	chr13:50996200-50998600	Enhancers	Brain Hippocampus Middle	brain
16	chr13:50996200-50998600	Enhancers	Fetal Heart	heart
17	chr13:50996200-50999800	Enhancers	Psoas Muscle	Psoas
18	chr13:50996400-50998400	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:50996600-51022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:50996800-50998000	Weak transcription	Right Ventricle	heart
21	chr13:50996800-50999400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:50997000-50998200	Weak transcription	Aorta	Aorta
23	chr13:50997000-50998200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:50997000-50999400	Weak transcription	Fetal Thymus	thymus
25	chr13:50997000-50999400	Weak transcription	Left Ventricle	heart
26	chr13:50997000-50999600	Weak transcription	Thymus	Thymus
27	chr13:50997000-51001000	Weak transcription	Stomach Mucosa	stomach
28	chr13:50997000-51001400	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:50997000-51002200	Weak transcription	Right Atrium	heart
30	chr13:50997200-51001200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:50997200-51001400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr13:50997400-51000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:50997400-51001200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:50997600-50997800	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:50997600-50997800	Enhancers	Stomach Smooth Muscle	stomach
36	chr13:50997600-50998000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr13:50997600-50998400	Weak transcription	Brain Substantia Nigra	brain
38	chr13:50997600-50999600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr13:50997600-51001400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr13:50997600-51002200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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