Variant report

Variant	rs151828
Chromosome Location	chr5:96060262-96060263
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	chr5:96060052..96061958-chr5:96069205..96072127,2	K562	blood:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs149313	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151829	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151830	0.80[EUR][1000 genomes]
rs26506	0.81[ASN][1000 genomes]
rs26515	0.82[ASN][1000 genomes]
rs27852	0.86[ASN][1000 genomes]
rs697976	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314177	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs151828	ERAP1	cis	brain	BrainEAC
rs151828	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs151828	ERAP1	cis	hippocampus	BrainEAC

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
3	chr5:96051000-96065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:96051000-96067000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:96051600-96065200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:96051600-96065400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:96051800-96060800	Weak transcription	HUVEC	blood vessel
10	chr5:96052400-96065400	Weak transcription	HepG2	liver
11	chr5:96052400-96065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:96053000-96062400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:96053000-96069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:96053400-96060800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:96053400-96065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:96053400-96065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:96053400-96066200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:96054800-96060800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:96054800-96063600	Weak transcription	Colonic Mucosa	Colon
20	chr5:96054800-96065400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:96054800-96065600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:96054800-96069600	Weak transcription	Stomach Mucosa	stomach
23	chr5:96054800-96069600	Weak transcription	K562	blood
24	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:96055000-96062600	Weak transcription	Brain Substantia Nigra	brain
26	chr5:96055600-96066200	Weak transcription	Spleen	Spleen
27	chr5:96055800-96060800	Weak transcription	Pancreas	Pancrea
28	chr5:96055800-96063600	Weak transcription	Esophagus	oesophagus
29	chr5:96055800-96065600	Weak transcription	Lung	lung
30	chr5:96057000-96067400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:96057400-96060800	Weak transcription	NH-A	brain
32	chr5:96057400-96062400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:96057400-96063600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:96057400-96065400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:96057400-96065400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:96057400-96065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:96057600-96062400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:96057600-96065600	Weak transcription	Ovary	ovary
39	chr5:96057600-96065600	Weak transcription	A549	lung
40	chr5:96057600-96067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:96057800-96060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:96057800-96060600	Weak transcription	Fetal Heart	heart
43	chr5:96057800-96060600	Weak transcription	HMEC	breast
44	chr5:96057800-96060600	Weak transcription	NHLF	lung
45	chr5:96057800-96060600	Weak transcription	Osteobl	bone
46	chr5:96057800-96060800	Weak transcription	Aorta	Aorta
47	chr5:96057800-96060800	Weak transcription	HSMM	muscle
48	chr5:96057800-96061000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:96057800-96062400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:96057800-96062400	Weak transcription	Brain Angular Gyrus	brain

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