Variant report

Variant	rs7143519
Chromosome Location	chr14:31074412-31074413
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31069035..31071443-chr14:31073257..31074780,2	K562	blood:
2	chr14:31067916..31070610-chr14:31073012..31074923,2	MCF-7	breast:
3	chr14:31069776..31071443-chr14:31072053..31074757,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11623363	0.93[EUR][1000 genomes]
rs11628068	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11847861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34093148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61754285	1.00[EUR][1000 genomes]
rs74041105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74041107	1.00[AMR][1000 genomes];1.00[EUR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31079600	Weak transcription	Gastric	stomach
2	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
3	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
4	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
7	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
8	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
17	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:31064200-31078200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:31064800-31078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:31064800-31086600	Strong transcription	Dnd41	blood
24	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:31065000-31075000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr14:31065400-31075000	Strong transcription	GM12878-XiMat	blood
27	chr14:31065600-31076800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:31065600-31086600	Strong transcription	HepG2	liver
29	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:31066000-31074800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:31066000-31078200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:31066800-31074600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr14:31066800-31074600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:31066800-31074600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:31066800-31075000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:31066800-31075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:31066800-31075000	Strong transcription	Fetal Intestine Large	intestine
42	chr14:31067000-31075000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:31067200-31074600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:31067200-31076800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:31067400-31074600	Strong transcription	Placenta	Placenta
46	chr14:31067400-31075000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:31067400-31075000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr14:31067400-31075000	Strong transcription	Thymus	Thymus
49	chr14:31067600-31074600	Strong transcription	Adipose Nuclei	Adipose
50	chr14:31067600-31075000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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