Variant report

Variant	rs60146581
Chromosome Location	chr14:70094754-70094755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70093575..70095940-chr14:70109923..70112166,2	K562	blood:
2	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:
3	chr14:70093321..70095778-chr14:70107499..70109457,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17107167	0.92[AFR][1000 genomes]
rs58291537	1.00[AFR][1000 genomes]
rs58658815	0.92[AFR][1000 genomes]
rs61606958	0.92[AFR][1000 genomes]
rs74060216	0.92[AFR][1000 genomes]
rs74060217	1.00[AFR][1000 genomes]
rs74060224	1.00[AFR][1000 genomes]
rs74060230	1.00[AFR][1000 genomes]
rs74060254	0.92[AFR][1000 genomes]
rs74060255	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
3	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
4	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:70087200-70100000	Weak transcription	NHEK	skin
6	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:70088600-70095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:70089600-70096000	Weak transcription	Ovary	ovary
10	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
12	chr14:70092200-70096200	Weak transcription	NHDF-Ad	bronchial
13	chr14:70092400-70095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:70092400-70096000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:70092400-70096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:70092400-70097800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:70092400-70098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:70092400-70098200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:70092400-70100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:70092400-70101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:70092600-70095800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70092600-70095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:70092600-70099600	Enhancers	Primary B cells from cord blood	blood
24	chr14:70092800-70094800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:70092800-70095000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:70092800-70095600	Weak transcription	Lung	lung
27	chr14:70092800-70095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:70092800-70095800	Weak transcription	Aorta	Aorta
29	chr14:70092800-70095800	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:70092800-70095800	Weak transcription	Esophagus	oesophagus
31	chr14:70092800-70095800	Weak transcription	Pancreas	Pancrea
32	chr14:70092800-70095800	Weak transcription	NHLF	lung
33	chr14:70092800-70096000	Weak transcription	Gastric	stomach
34	chr14:70092800-70096000	Weak transcription	Small Intestine	intestine
35	chr14:70092800-70096000	Weak transcription	HSMM	muscle
36	chr14:70092800-70096200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:70092800-70096200	Weak transcription	Fetal Stomach	stomach
38	chr14:70092800-70096200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:70092800-70096400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:70092800-70096600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:70092800-70097000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:70092800-70097000	Weak transcription	Fetal Intestine Small	intestine
43	chr14:70092800-70097600	Weak transcription	HMEC	breast
44	chr14:70092800-70098200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:70092800-70098200	Weak transcription	Fetal Kidney	kidney
46	chr14:70092800-70098400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:70092800-70098400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:70092800-70098400	Weak transcription	NH-A	brain
49	chr14:70092800-70098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:70092800-70098800	Weak transcription	Colonic Mucosa	Colon

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