Variant report

Variant	rs31907
Chromosome Location	chr5:14809355-14809356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14803203..14805368-chr5:14807741..14809611,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1620976	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1679138	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs174018	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1812659	0.81[EUR][1000 genomes]
rs2448493	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453320	0.93[ASN][1000 genomes]
rs258220	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258232	0.93[ASN][1000 genomes]
rs25946	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs26304	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs26305	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26306	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27353	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs30613	0.90[ASN][1000 genomes]
rs31910	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31911	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31917	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31931	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs31987	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31988	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31989	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31990	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs379016	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40402	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs412056	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42274	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs43178	0.83[ASN][1000 genomes]
rs826351	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826355	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826356	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs826358	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14776800-14809400	Weak transcription	HMEC	breast
3	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
5	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
7	chr5:14785800-14809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14788400-14809600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:14788600-14809600	Weak transcription	Psoas Muscle	Psoas
10	chr5:14788800-14809600	Weak transcription	Liver	Liver
11	chr5:14790600-14809800	Weak transcription	Stomach Mucosa	stomach
12	chr5:14791000-14809600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:14791400-14809800	Weak transcription	Aorta	Aorta
14	chr5:14791600-14809600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:14791600-14809600	Weak transcription	Small Intestine	intestine
16	chr5:14793800-14810000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:14795200-14809400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:14795200-14809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:14795400-14809600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:14795400-14809600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:14795600-14809600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:14798200-14809600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:14799600-14809600	Weak transcription	HSMMtube	muscle
25	chr5:14801200-14811200	Weak transcription	Esophagus	oesophagus
26	chr5:14802400-14809600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:14802400-14809800	Weak transcription	Primary T cells from cord blood	blood
28	chr5:14802600-14809400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:14802600-14809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:14802600-14809600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr5:14802800-14809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:14802800-14809600	Weak transcription	Lung	lung
33	chr5:14803000-14809400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:14803000-14809600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:14803000-14809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:14803000-14809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:14803000-14809600	Weak transcription	Spleen	Spleen
38	chr5:14803000-14809600	Weak transcription	A549	lung
39	chr5:14803200-14809600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:14803200-14810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:14805000-14810000	Weak transcription	Pancreas	Pancrea
42	chr5:14805200-14809600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:14806000-14809800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:14806200-14809600	Weak transcription	Dnd41	blood
45	chr5:14806200-14809800	Weak transcription	Right Atrium	heart
46	chr5:14806400-14809600	Weak transcription	HepG2	liver
47	chr5:14806600-14809600	Weak transcription	Brain Angular Gyrus	brain
48	chr5:14806800-14809400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:14806800-14809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:14806800-14809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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