Variant report

Variant	rs4902747
Chromosome Location	chr14:70153928-70153929
allele	A/G
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1109652	0.87[ASN][1000 genomes]
rs12589913	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12895185	0.87[ASN][1000 genomes]
rs2152373	0.87[ASN][1000 genomes]
rs2224541	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4899308	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6573897	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573902	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146578	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8008410	0.89[ASN][1000 genomes]
rs875424	0.88[ASN][1000 genomes]
rs943275	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945311	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][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	chr14:70150000-70154400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:70150200-70154200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:70151000-70155200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:70151600-70155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70152000-70155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:70152200-70154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:70152200-70155200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:70152200-70155200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:70152200-70156200	Enhancers	Brain Germinal Matrix	brain
18	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:70152400-70155000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:70152400-70155000	Weak transcription	Ovary	ovary
21	chr14:70152400-70156600	Weak transcription	Primary T cells from cord blood	blood
22	chr14:70152400-70156600	Weak transcription	Placenta	Placenta
23	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
24	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:70152600-70154400	Weak transcription	Fetal Lung	lung
26	chr14:70152600-70154400	Weak transcription	Right Ventricle	heart
27	chr14:70152600-70154800	Weak transcription	Stomach Mucosa	stomach
28	chr14:70152600-70155000	Weak transcription	HSMM	muscle
29	chr14:70152600-70155000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
31	chr14:70152600-70159800	Weak transcription	NHLF	lung
32	chr14:70152800-70154200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:70152800-70154200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:70152800-70154200	Weak transcription	Thymus	Thymus
35	chr14:70152800-70154400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:70152800-70154400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:70152800-70154800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:70152800-70155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:70152800-70155000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:70152800-70155000	Weak transcription	Esophagus	oesophagus
41	chr14:70152800-70155000	Weak transcription	Left Ventricle	heart
42	chr14:70152800-70155000	Weak transcription	Lung	lung
43	chr14:70152800-70155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:70152800-70155200	Weak transcription	Right Atrium	heart
45	chr14:70152800-70156400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:70152800-70156400	Weak transcription	Fetal Stomach	stomach
47	chr14:70152800-70156800	Weak transcription	Spleen	Spleen
48	chr14:70152800-70158000	Weak transcription	Gastric	stomach
49	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum

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