Variant report

Variant	rs17238330
Chromosome Location	chr5:74631262-74631263
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	HEY1	chr5:74630347-74631695	HepG2	liver:	n/a	n/a
2	EP300	chr5:74631241-74631667	HepG2	liver:	n/a	n/a
3	STAT3	chr5:74631214-74631307	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:74630261-74635036	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:
2	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:
3	chr5:74623256..74625820-chr5:74629134..74632022,2	K562	blood:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000113163	Chromatin interaction
ENSG00000242198	Chromatin interaction
ENSG00000122008	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10515198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11743717	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11746245	0.85[ASN][1000 genomes]
rs11749414	0.85[ASN][1000 genomes]
rs17244848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17562686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648288	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];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3761738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278921	0.81[AFR][1000 genomes]
rs5909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74619000-74631400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:74619400-74632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:74621000-74632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:74626000-74631800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:74626400-74631400	Weak transcription	K562	blood
6	chr5:74627600-74631400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:74627800-74631600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:74628000-74631800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:74628400-74631400	Weak transcription	Liver	Liver
10	chr5:74628400-74632000	Weak transcription	Stomach Mucosa	stomach
11	chr5:74629200-74631600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:74629400-74631800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:74630400-74631600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:74631000-74631400	Enhancers	HepG2	liver
15	chr5:74631000-74632000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:74631200-74631400	Enhancers	A549	lung
17	chr5:74631200-74631600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:74631200-74631800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:74631200-74631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:74631200-74631800	Enhancers	Dnd41	blood
21	chr5:74631200-74632000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:74631200-74632000	Enhancers	Fetal Intestine Small	intestine

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