Variant report

Variant	rs2017927
Chromosome Location	chr14:78301257-78301258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10130790	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10141465	0.95[ASN][1000 genomes]
rs10146144	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1107991	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11159290	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11159291	0.87[CHB][hapmap]
rs11159294	0.83[CHB][hapmap]
rs11159298	0.87[CHB][hapmap]
rs11159300	0.80[CHB][hapmap]
rs11159301	0.80[CHB][hapmap]
rs11159302	0.86[CHB][hapmap]
rs11159306	0.96[CHB][hapmap];0.80[ASN][1000 genomes]
rs11628049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12587361	0.80[CHB][hapmap]
rs12878904	0.84[CHB][hapmap]
rs12879726	0.80[CHB][hapmap]
rs12884153	0.80[CHB][hapmap]
rs12893815	0.96[CHB][hapmap];0.80[ASN][1000 genomes]
rs2003600	0.83[CHB][hapmap]
rs2010591	1.00[CEU][hapmap]
rs2052444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2080814	0.86[ASN][1000 genomes]
rs2080815	0.80[CHB][hapmap]
rs2080816	0.87[CHB][hapmap]
rs2080817	0.87[CHB][hapmap]
rs2098583	0.83[ASN][1000 genomes]
rs2098584	0.82[CHB][hapmap]
rs2112129	0.88[ASN][1000 genomes]
rs2287648	0.87[CHB][hapmap]
rs2364739	0.85[ASN][1000 genomes]
rs2364741	0.86[ASN][1000 genomes]
rs2364743	0.80[CHB][hapmap]
rs2364744	0.86[ASN][1000 genomes]
rs2364745	0.95[ASN][1000 genomes]
rs2364841	0.97[EUR][1000 genomes]
rs2364842	0.80[CHB][hapmap]
rs2886167	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2886168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3783962	0.80[CHB][hapmap]
rs3783966	0.87[CHB][hapmap]
rs3783968	0.87[CHB][hapmap]
rs3783971	0.92[ASN][1000 genomes]
rs3783974	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3825691	0.91[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825692	0.85[ASN][1000 genomes]
rs4359362	0.80[CHB][hapmap]
rs4371094	0.96[CHB][hapmap];0.82[ASN][1000 genomes]
rs4448861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4519274	0.80[EUR][1000 genomes]
rs4899677	0.83[CHB][hapmap]
rs4899678	0.87[CHB][hapmap]
rs4899679	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4903654	0.80[CHB][hapmap]
rs4903655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903656	0.87[CHB][hapmap]
rs4903658	0.80[CHB][hapmap]
rs4903660	0.96[CHB][hapmap];0.83[ASN][1000 genomes]
rs4903661	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4903662	0.96[CHB][hapmap];0.83[ASN][1000 genomes]
rs4903663	0.87[CHB][hapmap]
rs4903664	0.96[CHB][hapmap]
rs6574406	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574408	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574409	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145309	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7146020	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7149884	0.87[CHB][hapmap]
rs7149911	0.87[CHB][hapmap]
rs7151404	0.84[CHB][hapmap]
rs719049	0.80[CHB][hapmap]
rs724263	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs726538	0.83[CHB][hapmap]
rs741573	0.80[CHB][hapmap]
rs741574	0.87[CHB][hapmap]
rs741575	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7493386	0.81[CHB][hapmap]
rs8004053	0.80[ASN][1000 genomes]
rs8006218	0.96[ASN][1000 genomes]
rs8009433	0.84[CHB][hapmap]
rs8009937	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8010212	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014296	0.87[CHB][hapmap]
rs8018674	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8019539	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs8022985	0.80[ASN][1000 genomes]
rs874025	0.96[CHB][hapmap];0.80[ASN][1000 genomes]
rs877561	0.86[CHB][hapmap]
rs962539	0.84[CHB][hapmap]

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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3369402	chr14:78300214-78301650	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
5	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
6	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
15	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:78287000-78309600	Weak transcription	Osteobl	bone
17	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:78289600-78303800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:78289600-78304600	Weak transcription	Brain Anterior Caudate	brain
24	chr14:78289600-78305000	Weak transcription	Fetal Thymus	thymus
25	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
26	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:78289800-78306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:78289800-78309600	Weak transcription	Fetal Brain Female	brain
29	chr14:78290200-78305600	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:78292800-78305600	Weak transcription	Thymus	Thymus
31	chr14:78293000-78304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:78293000-78304800	Weak transcription	Dnd41	blood
33	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
34	chr14:78295200-78301400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:78295200-78302000	Strong transcription	Primary T cells from cord blood	blood
36	chr14:78295600-78302200	Strong transcription	Liver	Liver
37	chr14:78296400-78304200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:78296600-78303000	Strong transcription	Adipose Nuclei	Adipose
39	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
40	chr14:78297400-78304000	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:78297600-78305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:78297600-78324000	Weak transcription	Ovary	ovary
44	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
45	chr14:78297800-78304600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:78297800-78305800	Weak transcription	Primary B cells from cord blood	blood
47	chr14:78297800-78306600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum

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