Variant report

Variant	rs17087119
Chromosome Location	chr5:96212637-96212638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr5:96211386-96212684	K562	blood:	n/a	n/a
2	MTA3	chr5:96211421-96212693	GM12878	blood:	n/a	n/a
3	ARID3A	chr5:96211609-96212658	K562	blood:	n/a	n/a
4	POLR2A	chr5:96212005-96213100	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:96211781-96212639	U87	brain:	n/a	n/a
6	MYC	chr5:96211534-96212654	K562	blood:	n/a	n/a
7	NR2F2	chr5:96211818-96212661	K562	blood:	n/a	n/a
8	POLR2A	chr5:96211547-96212787	HUVEC	blood vessel:	n/a	n/a
9	IRF1	chr5:96211340-96213330	K562	blood:	n/a	chr5:96212173-96212190 chr5:96212168-96212182 chr5:96212170-96212184 chr5:96212176-96212190 chr5:96212166-96212186 chr5:96212174-96212184 chr5:96212171-96212185 chr5:96212179-96212196 chr5:96212168-96212189 chr5:96212174-96212185 chr5:96212172-96212192 chr5:96212172-96212185 chr5:96212172-96212185 chr5:96212174-96212188 chr5:96212172-96212185 chr5:96212175-96212186 chr5:96212169-96212180
10	POLR2A	chr5:96211730-96212659	Hela-S3	cervix:	n/a	n/a
11	IRF1	chr5:96211442-96213361	K562	blood:	n/a	chr5:96212173-96212190 chr5:96212168-96212182 chr5:96212170-96212184 chr5:96212176-96212190 chr5:96212166-96212186 chr5:96212174-96212184 chr5:96212171-96212185 chr5:96212179-96212196 chr5:96212168-96212189 chr5:96212174-96212185 chr5:96212172-96212192 chr5:96212172-96212185 chr5:96212172-96212185 chr5:96212174-96212188 chr5:96212172-96212185 chr5:96212175-96212186 chr5:96212169-96212180
12	POLR2A	chr5:96211390-96213417	GM12891	blood:	n/a	n/a
13	MAX	chr5:96211466-96212643	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96212491..96215464-chr5:96223042..96225542,2	K562	blood:
2	chr5:96142074..96143978-chr5:96212252..96215087,2	K562	blood:
3	chr5:96210744..96214555-chr5:96268958..96271606,4	MCF-7	breast:
4	chr5:96212214..96214084-chr5:96217203..96219457,3	K562	blood:
5	chr5:96142074..96145143-chr5:96212194..96215127,3	K562	blood:
6	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
7	chr5:96211294..96213902-chr5:96214706..96216915,2	MCF-7	breast:

Variant related genes	Relation type
ERAP2	TF binding region
ENSG00000247121	TF binding region
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17082231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087114	0.96[EUR][1000 genomes]
rs17087117	1.00[EUR][1000 genomes]
rs17087122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96211000-96213400	Active TSS	Right Atrium	heart
2	chr5:96211200-96213000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr5:96211400-96213000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:96211400-96213000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:96211400-96213000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:96211400-96213000	Active TSS	Brain Cingulate Gyrus	brain
7	chr5:96211400-96213000	Active TSS	Colon Smooth Muscle	Colon
8	chr5:96211400-96213000	Active TSS	A549	lung
9	chr5:96211400-96213200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:96211400-96213400	Active TSS	Brain Anterior Caudate	brain
11	chr5:96211400-96213800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr5:96211600-96213000	Active TSS	Left Ventricle	heart
13	chr5:96211600-96213000	Active TSS	Lung	lung
14	chr5:96211600-96213000	Active TSS	Pancreas	Pancrea
15	chr5:96211600-96213000	Active TSS	HSMM	muscle
16	chr5:96211600-96213200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:96211600-96213200	Active TSS	Aorta	Aorta
18	chr5:96211600-96213200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr5:96211600-96213200	Active TSS	Ovary	ovary
20	chr5:96211600-96213200	Active TSS	Right Ventricle	heart
21	chr5:96211600-96213400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:96211600-96213400	Active TSS	Brain Substantia Nigra	brain
23	chr5:96211600-96213400	Active TSS	Colonic Mucosa	Colon
24	chr5:96211600-96213600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:96211800-96212800	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:96211800-96212800	Active TSS	Fetal Muscle Trunk	muscle
27	chr5:96211800-96212800	Active TSS	Fetal Muscle Leg	muscle
28	chr5:96211800-96212800	Active TSS	Fetal Stomach	stomach
29	chr5:96211800-96212800	Active TSS	Rectal Smooth Muscle	rectum
30	chr5:96211800-96213000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:96211800-96213000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr5:96211800-96213000	Active TSS	Brain Hippocampus Middle	brain
33	chr5:96211800-96213000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:96211800-96213000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:96211800-96213000	Active TSS	Esophagus	oesophagus
36	chr5:96211800-96213000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr5:96211800-96213000	Active TSS	Fetal Intestine Large	intestine
38	chr5:96211800-96213000	Active TSS	NHLF	lung
39	chr5:96211800-96213200	Active TSS	Psoas Muscle	Psoas
40	chr5:96211800-96213200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:96211800-96213200	Active TSS	Small Intestine	intestine
42	chr5:96211800-96213200	Active TSS	Stomach Mucosa	stomach
43	chr5:96211800-96213200	Active TSS	Hela-S3	cervix
44	chr5:96211800-96213200	Active TSS	NHDF-Ad	bronchial
45	chr5:96211800-96213400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr5:96211800-96213400	Active TSS	Brain Angular Gyrus	brain
47	chr5:96211800-96213400	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:96211800-96217400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:96212000-96212800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:96212000-96212800	Active TSS	Primary T helper cells fromperipheralblood	blood

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