Variant report

Variant	rs151830
Chromosome Location	chr5:96057882-96057883
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	chr5:96055461..96059696-chr5:96062341..96066733,4	K562	blood:
2	chr5:95997594..96000233-chr5:96055537..96057890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs149313	0.80[EUR][1000 genomes]
rs149429	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs151828	0.80[EUR][1000 genomes]
rs151835	0.96[ASN][1000 genomes]
rs151904	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs26503	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs26504	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs467600	0.99[ASN][1000 genomes]
rs697976	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs151830	CAST	cis	Esophagus Muscularis	GTEx
rs151830	CAST	cis	Whole Blood	GTEx
rs151830	CTC-506B8.1	cis	Adipose Subcutaneous	GTEx
rs151830	CAST	cis	Adipose Subcutaneous	GTEx
rs151830	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
4	chr5:96049800-96058400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:96051400-96059200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:96051600-96065200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:96051600-96065400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:96051800-96060000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:96051800-96060800	Weak transcription	HUVEC	blood vessel
14	chr5:96052200-96058200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:96052400-96065400	Weak transcription	HepG2	liver
16	chr5:96052400-96065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:96053000-96062400	Weak transcription	Primary T cells from cord blood	blood
18	chr5:96053000-96069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:96053400-96060800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:96053400-96065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:96053400-96065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:96053400-96066200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:96054000-96058200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr5:96054800-96058200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:96054800-96060000	Weak transcription	Fetal Stomach	stomach
26	chr5:96054800-96060000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:96054800-96060800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:96054800-96063600	Weak transcription	Colonic Mucosa	Colon
29	chr5:96054800-96065400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:96054800-96065600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:96054800-96069600	Weak transcription	Stomach Mucosa	stomach
32	chr5:96054800-96069600	Weak transcription	K562	blood
33	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:96055000-96062600	Weak transcription	Brain Substantia Nigra	brain
35	chr5:96055200-96058600	Enhancers	Colon Smooth Muscle	Colon
36	chr5:96055200-96059800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:96055400-96058600	Enhancers	Fetal Lung	lung
38	chr5:96055600-96066200	Weak transcription	Spleen	Spleen
39	chr5:96055800-96059800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:96055800-96060000	Weak transcription	Placenta	Placenta
41	chr5:96055800-96060800	Weak transcription	Pancreas	Pancrea
42	chr5:96055800-96063600	Weak transcription	Esophagus	oesophagus
43	chr5:96055800-96065600	Weak transcription	Lung	lung
44	chr5:96056000-96058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:96056200-96058000	Enhancers	Liver	Liver
46	chr5:96056200-96058400	Enhancers	Fetal Intestine Small	intestine
47	chr5:96056200-96058400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr5:96056200-96058400	Weak transcription	Hela-S3	cervix
49	chr5:96056400-96058000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:96056400-96058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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