Variant report

Variant	rs17450482
Chromosome Location	chr7:117217987-117217988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115861595-115870968..7:117216968-117220729	H1-hESC	embryonic stem cell:	embryo
2	chr7:117212776..117215963-chr7:117216725..117220462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10155917	1.00[ASN][1000 genomes]
rs10156138	1.00[ASN][1000 genomes]
rs10224175	1.00[ASN][1000 genomes]
rs10230259	1.00[ASN][1000 genomes]
rs10234329	1.00[ASN][1000 genomes]
rs10237017	1.00[ASN][1000 genomes]
rs10240521	1.00[ASN][1000 genomes]
rs10240654	1.00[ASN][1000 genomes]
rs10242827	1.00[ASN][1000 genomes]
rs10244810	1.00[ASN][1000 genomes]
rs10249971	1.00[ASN][1000 genomes]
rs1025342	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255092	1.00[ASN][1000 genomes]
rs10258791	1.00[ASN][1000 genomes]
rs10262610	1.00[ASN][1000 genomes]
rs10262673	1.00[ASN][1000 genomes]
rs10264450	1.00[ASN][1000 genomes]
rs10264892	1.00[ASN][1000 genomes]
rs10266649	1.00[ASN][1000 genomes]
rs10270610	1.00[ASN][1000 genomes]
rs10276355	1.00[ASN][1000 genomes]
rs10278953	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10487364	0.91[CEU][hapmap];1.00[CHD][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487372	0.85[TSI][hapmap]
rs12536356	1.00[ASN][1000 genomes]
rs17139821	0.81[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544734	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545644	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547485	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs177071	1.00[ASN][1000 genomes]
rs1800130	1.00[ASN][1000 genomes]
rs1800503	0.81[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213954	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs213972	0.89[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518872	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254537	1.00[ASN][1000 genomes]
rs254538	1.00[ASN][1000 genomes]
rs28449716	1.00[ASN][1000 genomes]
rs28472519	1.00[ASN][1000 genomes]
rs28517401	1.00[ASN][1000 genomes]
rs34268361	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34420782	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34606983	1.00[ASN][1000 genomes]
rs34654194	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003065	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35130797	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342599	1.00[ASN][1000 genomes]
rs35415299	1.00[ASN][1000 genomes]
rs35615558	1.00[ASN][1000 genomes]
rs35715578	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35775845	1.00[ASN][1000 genomes]
rs35777371	1.00[ASN][1000 genomes]
rs35820454	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35987553	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995554	1.00[ASN][1000 genomes]
rs36042090	1.00[ASN][1000 genomes]
rs36082161	1.00[ASN][1000 genomes]
rs39308	1.00[ASN][1000 genomes]
rs39309	1.00[ASN][1000 genomes]
rs39310	1.00[ASN][1000 genomes]
rs39311	1.00[ASN][1000 genomes]
rs39314	1.00[ASN][1000 genomes]
rs39320	1.00[ASN][1000 genomes]
rs39321	1.00[ASN][1000 genomes]
rs39322	1.00[ASN][1000 genomes]
rs39325	1.00[ASN][1000 genomes]
rs4148717	1.00[ASN][1000 genomes]
rs4285411	1.00[ASN][1000 genomes]
rs6466610	1.00[ASN][1000 genomes]
rs6943074	1.00[ASN][1000 genomes]
rs6943509	1.00[ASN][1000 genomes]
rs6961545	1.00[ASN][1000 genomes]
rs6963669	1.00[ASN][1000 genomes]
rs6965682	1.00[ASN][1000 genomes]
rs6968747	1.00[ASN][1000 genomes]
rs73480763	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779015	1.00[ASN][1000 genomes]
rs7795896	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7799504	1.00[ASN][1000 genomes]
rs7802924	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808474	1.00[ASN][1000 genomes]
rs7809485	1.00[ASN][1000 genomes]
rs7812185	1.00[ASN][1000 genomes]
rs916727	1.00[ASN][1000 genomes]
rs916728	1.00[ASN][1000 genomes]
rs9886209	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889077	chr7:117129404-117238379	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv889078	chr7:117135025-117246315	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv889080	chr7:117176248-117238379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv889081	chr7:117203417-117238379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889082	chr7:117203417-117246315	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv889083	chr7:117203417-117256374	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv889084	chr7:117212723-117246315	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv889085	chr7:117214089-117246315	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv889086	chr7:117214089-117252873	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117208600-117232400	Weak transcription	Pancreas	Pancrea
2	chr7:117213600-117220400	Weak transcription	A549	lung
3	chr7:117214000-117228000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:117214400-117228000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:117216600-117218200	Enhancers	Dnd41	blood
6	chr7:117216800-117235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:117217200-117226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:117217400-117222000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:117217400-117222800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:117217600-117218400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr7:117217800-117218200	Weak transcription	Fetal Intestine Small	intestine

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