Variant report

Variant	rs34431049
Chromosome Location	chr15:52940538-52940539
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52938830..52941710-chr15:52949842..52951854,2	MCF-7	breast:
2	chr15:52922172..52924304-chr15:52938305..52941001,3	MCF-7	breast:
3	chr15:52917001..52919976-chr15:52938133..52940724,2	MCF-7	breast:
4	chr15:52929482..52933252-chr15:52937332..52940683,4	MCF-7	breast:
5	chr15:52938136..52941304-chr15:52969485..52971634,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10851521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070908	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070909	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11633933	0.83[AMR][1000 genomes]
rs11853917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11857150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858743	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232257	0.82[ASN][1000 genomes]
rs12898644	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12914047	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12914502	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12915981	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863512	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2414163	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2414166	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751614	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774636	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776068	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62023352	0.87[ASN][1000 genomes]
rs8026800	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933860	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv457140	chr15:52901433-52968746	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
2	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:52885600-52945200	Weak transcription	Spleen	Spleen
5	chr15:52899600-52944400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:52900600-52944000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:52900800-52945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:52902200-52943800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:52902600-52942000	Weak transcription	HUVEC	blood vessel
10	chr15:52903400-52943800	Weak transcription	Hela-S3	cervix
11	chr15:52903400-52944000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:52903600-52942400	Weak transcription	Dnd41	blood
13	chr15:52903600-52945400	Weak transcription	Colonic Mucosa	Colon
14	chr15:52904000-52943400	Weak transcription	Fetal Kidney	kidney
15	chr15:52904000-52945400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:52904000-52956800	Weak transcription	Esophagus	oesophagus
17	chr15:52906200-52944000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:52908600-52956200	Weak transcription	Gastric	stomach
19	chr15:52909000-52942400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:52909600-52944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:52909600-52950800	Weak transcription	Pancreas	Pancrea
22	chr15:52915600-52944200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:52916200-52942800	Weak transcription	Fetal Brain Female	brain
24	chr15:52917000-52943600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:52920800-52942800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:52923200-52945200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:52927800-52943800	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:52927800-52947600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:52927800-52958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:52928000-52942400	Weak transcription	Brain Germinal Matrix	brain
31	chr15:52928000-52944000	Weak transcription	Fetal Intestine Small	intestine
32	chr15:52928000-52955200	Weak transcription	Thymus	Thymus
33	chr15:52928000-52956400	Weak transcription	Lung	lung
34	chr15:52928200-52943800	Weak transcription	Fetal Stomach	stomach
35	chr15:52928200-52945400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:52929200-52942800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:52929400-52945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:52929800-52944000	Weak transcription	Aorta	Aorta
39	chr15:52929800-52945200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:52930400-52943800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:52930600-52942800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:52931000-52944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:52934400-52943800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:52935000-52943600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr15:52935200-52942000	Weak transcription	Fetal Lung	lung
46	chr15:52935200-52943000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:52935200-52943400	Weak transcription	HSMM	muscle
48	chr15:52935200-52943600	Weak transcription	Right Atrium	heart
49	chr15:52935200-52943800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:52935400-52941600	Weak transcription	Brain Angular Gyrus	brain

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