Variant report

Variant	rs60330258
Chromosome Location	chr14:78341247-78341248
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10141302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11621071	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11622333	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11623841	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11624543	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11625402	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17106501	0.84[AFR][1000 genomes]
rs17753195	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1972615	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28566696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28653270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58092208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58940899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60021537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7359160	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74063702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065816	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065820	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9323655	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9323656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:52 , 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	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
4	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
9	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
15	chr14:78326400-78342000	Weak transcription	Adipose Nuclei	Adipose
16	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
17	chr14:78327000-78342000	Weak transcription	Lung	lung
18	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
20	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:78329000-78345000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:78329000-78345800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
24	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:78329200-78345400	Weak transcription	Right Ventricle	heart
26	chr14:78329400-78345200	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
31	chr14:78336000-78341800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:78337200-78345400	Weak transcription	Left Ventricle	heart
34	chr14:78338400-78342200	Weak transcription	Primary T cells from cord blood	blood
35	chr14:78338400-78342200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:78338800-78341600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:78338800-78341800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:78339000-78345400	Weak transcription	K562	blood
39	chr14:78339600-78341400	Enhancers	Gastric	stomach
40	chr14:78339600-78341800	Weak transcription	Liver	Liver
41	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:78340600-78342000	Weak transcription	Spleen	Spleen
45	chr14:78340600-78348200	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:78340600-78353600	Weak transcription	Dnd41	blood
50	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood

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