Variant report

Variant	rs4903654
Chromosome Location	chr14:78300314-78300315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10130790	0.84[CHB][hapmap]
rs10873312	0.86[ASN][1000 genomes]
rs1107991	0.83[CHB][hapmap]
rs11159290	0.83[CHB][hapmap]
rs11159291	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs11159294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159298	0.82[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11159299	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159300	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159301	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159302	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159303	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11159305	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11159306	0.84[CHB][hapmap]
rs11621642	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622297	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625833	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11626480	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628049	0.83[CHB][hapmap]
rs11629157	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587361	0.93[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12590199	0.84[CEU][hapmap];0.83[AMR][1000 genomes]
rs12878904	0.96[CHB][hapmap]
rs12879726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12884153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891444	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12891769	0.88[ASN][1000 genomes]
rs12893815	0.84[CHB][hapmap]
rs12894510	0.93[ASN][1000 genomes]
rs12897885	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17826188	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2003600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013130	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2017927	0.80[CHB][hapmap]
rs2052444	0.83[CHB][hapmap]
rs2080815	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2080816	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2080817	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2080818	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2098584	0.90[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2287648	0.95[CHB][hapmap]
rs2287650	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs2364743	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364842	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2886166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886167	0.83[CHB][hapmap]
rs2886168	0.83[CHB][hapmap]
rs3783962	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783966	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783968	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783969	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783970	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783972	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783974	0.84[CHB][hapmap]
rs3825691	0.84[CHB][hapmap]
rs4359362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4371094	0.84[CHB][hapmap]
rs4393507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4411442	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4899678	0.95[CHB][hapmap]
rs4899679	0.80[CHB][hapmap]
rs4903650	0.86[ASN][1000 genomes]
rs4903652	0.86[ASN][1000 genomes]
rs4903653	0.86[ASN][1000 genomes]
rs4903656	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903657	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903658	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4903660	0.84[CHB][hapmap]
rs4903661	0.83[CHB][hapmap]
rs4903662	0.84[CHB][hapmap]
rs4903663	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903664	0.84[CHB][hapmap]
rs4903666	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs4903667	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs7145309	0.83[CHB][hapmap]
rs7145567	0.82[CHB][hapmap]
rs7147735	0.84[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs7149884	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs719049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724263	0.84[CHB][hapmap]
rs726538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734654	0.82[CHB][hapmap]
rs7401295	0.86[ASN][1000 genomes]
rs741573	0.93[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs741574	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs741575	0.83[CHB][hapmap]
rs7493235	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7493386	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap]
rs7494718	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014296	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8018674	0.83[CHB][hapmap]
rs8019539	0.83[CHB][hapmap]
rs8020016	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs874025	0.84[CHB][hapmap]
rs877561	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs962539	0.87[CHB][hapmap]
rs962540	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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:83 , 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	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
9	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
17	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:78287000-78309600	Weak transcription	Osteobl	bone
19	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:78289400-78300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:78289400-78301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:78289600-78301200	Weak transcription	Psoas Muscle	Psoas
28	chr14:78289600-78303800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:78289600-78304600	Weak transcription	Brain Anterior Caudate	brain
30	chr14:78289600-78305000	Weak transcription	Fetal Thymus	thymus
31	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
32	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:78289800-78306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:78289800-78309600	Weak transcription	Fetal Brain Female	brain
35	chr14:78290200-78305600	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:78292800-78305600	Weak transcription	Thymus	Thymus
37	chr14:78293000-78304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:78293000-78304800	Weak transcription	Dnd41	blood
39	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
40	chr14:78295200-78301400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:78295200-78302000	Strong transcription	Primary T cells from cord blood	blood
42	chr14:78295600-78302200	Strong transcription	Liver	Liver
43	chr14:78296400-78304200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:78296600-78300800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:78296600-78303000	Strong transcription	Adipose Nuclei	Adipose
46	chr14:78296800-78301000	Weak transcription	Fetal Stomach	stomach
47	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
48	chr14:78297400-78304000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:78297600-78301000	Weak transcription	Lung	lung
50	chr14:78297600-78305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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