Variant report

Variant	rs74060279
Chromosome Location	chr14:70154439-70154440
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	chr14:70149459..70151433-chr14:70153411..70154973,2	MCF-7	breast:
2	chr14:70148349..70149989-chr14:70151546..70154474,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17107167	0.84[AFR][1000 genomes]
rs55634075	1.00[AFR][1000 genomes]
rs56762756	0.83[AFR][1000 genomes]
rs58658815	0.84[AFR][1000 genomes]
rs61389585	1.00[AFR][1000 genomes]
rs61710255	1.00[AFR][1000 genomes]
rs74060254	0.84[AFR][1000 genomes]
rs74060255	0.84[AFR][1000 genomes]
rs74060260	1.00[AFR][1000 genomes]
rs74060265	0.83[AFR][1000 genomes]
rs74060266	1.00[AFR][1000 genomes]
rs74060268	1.00[AFR][1000 genomes]
rs74060273	1.00[AFR][1000 genomes]
rs74060275	0.83[AFR][1000 genomes]
rs74060276	1.00[AFR][1000 genomes]
rs74060287	1.00[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70146800-70155600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70148400-70156800	Enhancers	HepG2	liver
3	chr14:70148600-70155800	Enhancers	Fetal Thymus	thymus
4	chr14:70148800-70156600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:70149200-70156200	Enhancers	Brain Hippocampus Middle	brain
6	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70151000-70155200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:70151600-70155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:70152000-70155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:70152200-70155200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:70152200-70155200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:70152200-70156200	Enhancers	Brain Germinal Matrix	brain
15	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:70152400-70155000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:70152400-70155000	Weak transcription	Ovary	ovary
18	chr14:70152400-70156600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:70152400-70156600	Weak transcription	Placenta	Placenta
20	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
21	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:70152600-70154800	Weak transcription	Stomach Mucosa	stomach
23	chr14:70152600-70155000	Weak transcription	HSMM	muscle
24	chr14:70152600-70155000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
26	chr14:70152600-70159800	Weak transcription	NHLF	lung
27	chr14:70152800-70154800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:70152800-70155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70152800-70155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:70152800-70155000	Weak transcription	Esophagus	oesophagus
31	chr14:70152800-70155000	Weak transcription	Left Ventricle	heart
32	chr14:70152800-70155000	Weak transcription	Lung	lung
33	chr14:70152800-70155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:70152800-70155200	Weak transcription	Right Atrium	heart
35	chr14:70152800-70156400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:70152800-70156400	Weak transcription	Fetal Stomach	stomach
37	chr14:70152800-70156800	Weak transcription	Spleen	Spleen
38	chr14:70152800-70158000	Weak transcription	Gastric	stomach
39	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:70152800-70159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:70152800-70159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:70152800-70159600	Weak transcription	Pancreas	Pancrea
44	chr14:70153000-70154600	Weak transcription	HSMMtube	muscle
45	chr14:70153000-70154800	Weak transcription	Fetal Brain Male	brain
46	chr14:70153000-70154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:70153000-70154800	Weak transcription	GM12878-XiMat	blood
48	chr14:70153000-70155000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:70153000-70158800	Weak transcription	Liver	Liver
50	chr14:70153000-70158800	Weak transcription	Fetal Intestine Large	intestine

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