Variant report

Variant	rs4498257
Chromosome Location	chr5:43417023-43417024
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	TBP	chr5:43417016-43417161	K562	blood:	n/a	n/a
2	ESR1	chr5:43416680-43417361	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
3	ESR1	chr5:43416776-43417388	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
4	ESR1	chr5:43416724-43417295	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
5	JUN	chr5:43415728-43417127	K562	blood:	n/a	chr5:43416868-43416882
6	ESR1	chr5:43416807-43417202	ECC-1	luminal epithelium:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
7	NRF1	chr5:43416979-43417149	GM12878	blood:	n/a	n/a
8	ESR1	chr5:43416746-43417438	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
9	ESR1	chr5:43416896-43417103	ECC-1	luminal epithelium:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
10	ESR1	chr5:43416687-43417432	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
11	ESR1	chr5:43416730-43417311	ECC-1	luminal epithelium:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
12	ESR1	chr5:43416788-43417340	ECC-1	luminal epithelium:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
13	ESR1	chr5:43416750-43417102	ECC-1	luminal epithelium:	n/a	chr5:43416994-43417011 chr5:43416993-43417010
14	ESR1	chr5:43416784-43417244	T-47D	breast:	n/a	chr5:43416994-43417011 chr5:43416993-43417010

No.	Distal block	Cell Line	Cell type
1	chr5:43414938..43417802-chr5:43484116..43485960,3	K562	blood:
2	chr5:43414418..43419410-chr5:43420621..43423728,9	MCF-7	breast:
3	chr5:43415058..43417712-chr5:43429941..43433858,3	MCF-7	breast:
4	chr5:43416364..43419275-chr5:43427305..43429059,2	MCF-7	breast:
5	chr5:43415947..43418426-chr5:43483212..43485985,2	MCF-7	breast:
6	chr5:43124778..43127199-chr5:43415095..43418069,2	K562	blood:
7	chr5:43416042..43417802-chr5:43484116..43485960,3	K562	blood:
8	chr5:43414209..43417437-chr5:43419319..43422239,3	K562	blood:
9	chr5:43411569..43413529-chr5:43414948..43417316,2	MCF-7	breast:

Variant related genes	Relation type
CCL28	TF binding region
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000151882	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10066349	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069318	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1025299	1.00[JPT][hapmap]
rs10461740	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10461741	1.00[JPT][hapmap]
rs10941642	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12656248	0.98[ASN][1000 genomes]
rs12656650	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12657635	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12657724	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12659627	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13154319	1.00[CEU][hapmap]
rs13155622	1.00[CEU][hapmap]
rs13155888	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13159247	1.00[ASN][1000 genomes]
rs13160431	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13165869	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13167785	1.00[ASN][1000 genomes]
rs13167838	1.00[CEU][hapmap]
rs13167974	1.00[ASN][1000 genomes]
rs13168053	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13169908	1.00[CEU][hapmap]
rs13173517	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13177107	1.00[JPT][hapmap]
rs13180902	1.00[CEU][hapmap]
rs13186439	1.00[CEU][hapmap]
rs13190188	1.00[ASN][1000 genomes]
rs16873315	0.87[AFR][1000 genomes]
rs16873319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042950	1.00[JPT][hapmap]
rs34057521	1.00[ASN][1000 genomes]
rs34087297	0.98[ASN][1000 genomes]
rs34181466	1.00[ASN][1000 genomes]
rs34353246	0.93[ASN][1000 genomes]
rs34388270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34685576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141306	1.00[ASN][1000 genomes]
rs35929451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733767	1.00[JPT][hapmap]
rs3756417	1.00[JPT][hapmap]
rs3806871	1.00[CEU][hapmap]
rs3822423	1.00[JPT][hapmap]
rs4264950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529199	0.98[ASN][1000 genomes]
rs4533897	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4554231	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56729517	0.85[AFR][1000 genomes]
rs6862588	1.00[JPT][hapmap]
rs6886399	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs6889653	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6890108	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6892337	1.00[JPT][hapmap]
rs71629168	1.00[ASN][1000 genomes]
rs71629169	0.98[ASN][1000 genomes]
rs7713529	0.98[ASN][1000 genomes]
rs7720858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731345	0.85[AFR][1000 genomes]
rs7736173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737947	1.00[JPT][hapmap]
rs9292877	1.00[JPT][hapmap]

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43402200-43420200	Weak transcription	Gastric	stomach
2	chr5:43411200-43418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:43412600-43420400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:43412600-43421600	Weak transcription	Pancreas	Pancrea
5	chr5:43415800-43417200	Enhancers	Hela-S3	cervix
6	chr5:43415800-43417400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:43416200-43417200	Enhancers	Fetal Intestine Small	intestine
8	chr5:43416400-43417400	Enhancers	Stomach Mucosa	stomach
9	chr5:43416600-43417600	Enhancers	Small Intestine	intestine
10	chr5:43416600-43417600	Enhancers	K562	blood
11	chr5:43416800-43417200	Enhancers	Duodenum Mucosa	Duodenum
12	chr5:43416800-43417200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:43416800-43417200	Enhancers	HepG2	liver

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