Variant report

Variant	rs17478897
Chromosome Location	chr5:96062617-96062618
allele	C/T
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	POLR2A	chr5:96062392-96062920	H1-neurons	neurons:	n/a	n/a
2	MAX	chr5:96062474-96062772	K562	blood:	n/a	n/a
3	EP300	chr5:96062533-96062747	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:96062518-96062691	K562	blood:	n/a	n/a
5	CEBPB	chr5:96062481-96062765	HepG2	liver:	n/a	n/a
6	EP300	chr5:96062438-96062779	K562	blood:	n/a	n/a
7	POLR2A	chr5:96062448-96062915	H1-neurons	neurons:	n/a	n/a
8	HCFC1	chr5:96062607-96062635	K562	blood:	n/a	n/a
9	MAX	chr5:96062479-96062741	Hela-S3	cervix:	n/a	n/a
10	JUND	chr5:96062455-96062662	HepG2	liver:	n/a	n/a
11	CEBPB	chr5:96062440-96062794	Hela-S3	cervix:	n/a	n/a
12	MYC	chr5:96062454-96062819	K562	blood:	n/a	n/a
13	JUND	chr5:96062585-96062683	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96061386..96063186-chr5:96065579..96067865,2	K562	blood:

Variant related genes	Relation type
CAST	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10447215	0.92[EUR][1000 genomes]
rs10515244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11739280	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11745122	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11750399	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11750400	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1559085	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17400685	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17400741	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17402639	0.81[EUR][1000 genomes]
rs17479052	0.92[EUR][1000 genomes]
rs56122780	0.92[EUR][1000 genomes]
rs72773912	0.81[EUR][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

No data

Chromatin state (count:108 , 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	chr5:96052400-96065400	Weak transcription	HepG2	liver
10	chr5:96052400-96065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:96053000-96069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:96053400-96065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:96053400-96065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:96053400-96066200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:96054800-96063600	Weak transcription	Colonic Mucosa	Colon
16	chr5:96054800-96065400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:96054800-96065600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:96054800-96069600	Weak transcription	Stomach Mucosa	stomach
19	chr5:96054800-96069600	Weak transcription	K562	blood
20	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:96055600-96066200	Weak transcription	Spleen	Spleen
22	chr5:96055800-96063600	Weak transcription	Esophagus	oesophagus
23	chr5:96055800-96065600	Weak transcription	Lung	lung
24	chr5:96057000-96067400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:96057400-96063600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:96057400-96065400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:96057400-96065400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:96057400-96065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:96057600-96065600	Weak transcription	Ovary	ovary
30	chr5:96057600-96065600	Weak transcription	A549	lung
31	chr5:96057600-96067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:96057800-96065200	Weak transcription	Gastric	stomach
33	chr5:96057800-96066200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:96057800-96066200	Weak transcription	Fetal Kidney	kidney
35	chr5:96057800-96066200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:96057800-96066200	Weak transcription	NHDF-Ad	bronchial
37	chr5:96057800-96075200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:96057800-96076000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
40	chr5:96058000-96065400	Weak transcription	HSMMtube	muscle
41	chr5:96058000-96077200	Weak transcription	Small Intestine	intestine
42	chr5:96058000-96078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:96058200-96067000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:96058200-96067600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:96058400-96065200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:96058400-96067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:96058400-96069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:96059200-96063800	Strong transcription	Primary B cells from cord blood	blood
49	chr5:96059800-96063000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr5:96060000-96063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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