Variant report

Variant	rs35283
Chromosome Location	chr5:58656252-58656253
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	MAX	chr5:58655932-58656369	NB4	blood:	n/a	n/a
2	GATA3	chr5:58655996-58656412	A549	lung:	n/a	n/a
3	NR3C1	chr5:58656001-58656444	A549	lung:	n/a	n/a
4	SP1	chr5:58655806-58656741	A549	lung:	n/a	n/a
5	CEBPB	chr5:58655980-58656547	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
6	CTCF	chr5:58656240-58656390	HCPEpiC	choroid plexus:	n/a	n/a
7	NR3C1	chr5:58655979-58656386	A549	lung:	n/a	n/a
8	NR3C1	chr5:58655985-58656346	A549	lung:	n/a	n/a
9	SP1	chr5:58655875-58656466	A549	lung:	n/a	n/a
10	CEBPB	chr5:58655870-58656886	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
11	NR3C1	chr5:58655967-58656360	A549	lung:	n/a	n/a
12	NR3C1	chr5:58655994-58656324	A549	lung:	n/a	n/a
13	CEBPB	chr5:58655968-58656493	A549	lung:	n/a	chr5:58656328-58656341 chr5:58656201-58656214
14	EP300	chr5:58655859-58656877	A549	lung:	n/a	n/a
15	EP300	chr5:58655808-58656709	A549	lung:	n/a	n/a
16	MYC	chr5:58655834-58656381	NB4	blood:	n/a	n/a
17	FOXA1	chr5:58655978-58656448	A549	lung:	n/a	n/a
18	NR3C1	chr5:58655998-58656390	A549	lung:	n/a	n/a
19	BCL3	chr5:58655859-58656666	A549	lung:	n/a	n/a
20	TCF12	chr5:58655615-58656700	A549	lung:	n/a	n/a
21	FOXA2	chr5:58655902-58656447	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58651518..58653116-chr5:58654954..58657664,2	K562	blood:

Variant related genes	Relation type
PDE4D	TF binding region
ENSG00000113448	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs154024	0.92[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs154031	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs168641	0.98[ASN][1000 genomes]
rs193447	0.80[GIH][hapmap]
rs2441091	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs244573	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs244577	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs244579	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs244580	0.84[ASN][1000 genomes]
rs244582	0.98[ASN][1000 genomes]
rs244583	0.98[ASN][1000 genomes]
rs244586	0.93[ASN][1000 genomes]
rs244587	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs244588	0.95[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs35258	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs35261	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs35267	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35274	0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs35276	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35277	0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs35278	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35279	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39672	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40126	0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032732	chr5:58637179-58689010	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1022160	chr5:58645805-58689010	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv881704	chr5:58653383-58675538	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58652200-58656600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:58652400-58656400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:58652800-58656400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:58653000-58669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:58653600-58657800	Enhancers	Fetal Heart	heart
6	chr5:58654000-58657200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:58654400-58667000	Weak transcription	Fetal Intestine Large	intestine
8	chr5:58654600-58656400	Enhancers	Fetal Lung	lung
9	chr5:58654600-58657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58654600-58665400	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:58654800-58657000	Weak transcription	Gastric	stomach
12	chr5:58654800-58659400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:58654800-58665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:58655000-58657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:58655000-58657400	Weak transcription	Stomach Mucosa	stomach
16	chr5:58655000-58659200	Weak transcription	Fetal Intestine Small	intestine
17	chr5:58655000-58659600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:58655600-58656400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:58655600-58657000	Flanking Active TSS	A549	lung
20	chr5:58655800-58656400	Active TSS	Right Atrium	heart
21	chr5:58656000-58656400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:58656000-58656400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:58656000-58656400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:58656000-58656400	Enhancers	Left Ventricle	heart
25	chr5:58656000-58656400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr5:58656000-58656400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:58656000-58656800	Enhancers	Fetal Kidney	kidney
28	chr5:58656200-58656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:58656200-58656400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:58656200-58658000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:58656200-58665400	Weak transcription	Psoas Muscle	Psoas

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