Variant report

Variant	rs11629157
Chromosome Location	chr14:78348293-78348294
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	chr14:78338677..78341150-chr14:78346418..78348981,2	K562	blood:
2	chr14:78346765..78348633-chr14:78356131..78358979,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10873312	0.84[ASN][1000 genomes]
rs11159291	0.84[ASN][1000 genomes]
rs11159294	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11159298	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11159299	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159300	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159301	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159302	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159303	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159305	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11621642	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11622297	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625833	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626480	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587361	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590199	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12879726	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12879890	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12884153	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12891444	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12891769	0.96[ASN][1000 genomes]
rs12897885	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17826188	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2003600	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2013130	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2080815	0.89[ASN][1000 genomes]
rs2080816	0.96[ASN][1000 genomes]
rs2080817	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2080818	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2098584	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287648	0.91[ASN][1000 genomes]
rs2287650	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2364743	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2364842	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2886166	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3783962	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3783966	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783968	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783969	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783970	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783972	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4359362	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4393507	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4411442	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899677	0.83[ASN][1000 genomes]
rs4903650	0.84[ASN][1000 genomes]
rs4903652	0.84[ASN][1000 genomes]
rs4903653	0.84[ASN][1000 genomes]
rs4903654	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4903656	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903657	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903658	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903663	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903666	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4903667	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7147735	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7149884	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719049	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs726538	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7401295	0.84[ASN][1000 genomes]
rs741573	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741574	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7493235	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7494718	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014296	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8020016	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs877561	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs962540	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
3	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
5	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
9	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
11	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
17	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
18	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:78340600-78353600	Weak transcription	Dnd41	blood
25	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
28	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
29	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
30	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:78345000-78353600	Weak transcription	Liver	Liver
32	chr14:78345200-78350400	Enhancers	Brain Germinal Matrix	brain
33	chr14:78345400-78350800	Enhancers	Left Ventricle	heart
34	chr14:78345600-78349200	Weak transcription	Stomach Mucosa	stomach
35	chr14:78345600-78350200	Enhancers	Fetal Heart	heart
36	chr14:78346200-78348400	Weak transcription	Brain Substantia Nigra	brain
37	chr14:78346400-78348600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:78346400-78348600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:78346400-78352800	Weak transcription	Primary T cells from cord blood	blood
40	chr14:78346600-78348400	Weak transcription	Adipose Nuclei	Adipose
41	chr14:78346600-78348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:78346600-78349000	Weak transcription	K562	blood
43	chr14:78346600-78353400	Weak transcription	Ovary	ovary
44	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:78346800-78353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:78347200-78348800	Weak transcription	NHEK	skin
47	chr14:78347200-78352400	Weak transcription	Gastric	stomach
48	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
49	chr14:78347400-78353600	Weak transcription	Pancreas	Pancrea
50	chr14:78347600-78349400	Enhancers	Right Atrium	heart

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