Variant report

Variant	rs41292776
Chromosome Location	chr13:52343004-52343005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52306205..52308495-chr13:52341263..52344229,2	MCF-7	breast:
2	chr13:52024516..52028939-chr13:52342727..52345568,4	MCF-7	breast:
3	chr13:52337340..52339624-chr13:52341106..52343794,2	K562	blood:
4	chr13:52337387..52338953-chr13:52340888..52343879,2	MCF-7	breast:
5	chr13:52024690..52027265-chr13:52341888..52344446,2	K562	blood:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1060562	0.97[ASN][1000 genomes]
rs12146894	0.97[ASN][1000 genomes]
rs12427748	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1475195	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17075907	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17532412	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17532524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17532936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17597215	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17597531	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1885854	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296029	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897944	0.99[ASN][1000 genomes]
rs3908968	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4555048	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs483879	1.00[AFR][1000 genomes]
rs488261	1.00[AFR][1000 genomes]
rs60757273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73199734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73199746	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526783	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526786	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526788	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9526793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535714	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535715	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535717	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9535722	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9535734	0.93[ASN][1000 genomes]
rs9535735	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535737	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535738	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535739	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535741	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535744	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535746	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535748	0.99[ASN][1000 genomes]
rs9535749	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52323000-52343400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr13:52327600-52343200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:52333000-52343600	Weak transcription	Psoas Muscle	Psoas
5	chr13:52334400-52343800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:52335000-52343200	Weak transcription	Ovary	ovary
7	chr13:52335200-52347000	Weak transcription	Fetal Brain Male	brain
8	chr13:52335200-52348000	Weak transcription	Fetal Brain Female	brain
9	chr13:52339400-52343400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr13:52339400-52343800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr13:52339400-52343800	Weak transcription	Brain Anterior Caudate	brain
12	chr13:52339400-52343800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:52339400-52345000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:52339400-52347000	Weak transcription	A549	lung
15	chr13:52339400-52347600	Weak transcription	Aorta	Aorta
16	chr13:52339400-52347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:52339400-52347800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:52339400-52349600	Weak transcription	Placenta	Placenta
19	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
22	chr13:52339600-52343400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:52339600-52343600	Weak transcription	Stomach Mucosa	stomach
24	chr13:52339600-52344000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:52339600-52344400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:52339800-52343400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:52339800-52343400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:52339800-52343400	Weak transcription	Brain Substantia Nigra	brain
32	chr13:52339800-52343600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:52339800-52345600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:52339800-52345600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:52339800-52346200	Strong transcription	Primary T cells from cord blood	blood
36	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr13:52340000-52343600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:52340400-52343200	Genic enhancers	Pancreas	Pancrea
41	chr13:52340400-52343400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:52340400-52344000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr13:52340400-52346400	Strong transcription	Thymus	Thymus
44	chr13:52340400-52348200	Strong transcription	Fetal Stomach	stomach
45	chr13:52340600-52343200	Strong transcription	Liver	Liver
46	chr13:52340600-52343200	Weak transcription	Small Intestine	intestine
47	chr13:52340600-52343400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:52340600-52343400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:52340600-52343600	Strong transcription	Fetal Intestine Small	intestine
50	chr13:52340800-52343800	Weak transcription	HMEC	breast

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