Variant report

Variant	rs2614967
Chromosome Location	chr7:3627799-3627800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3624042..3625672-chr7:3626577..3628999,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10085617	0.92[YRI][hapmap];0.82[AMR][1000 genomes]
rs11767639	0.81[GIH][hapmap];0.85[MEX][hapmap]
rs1202219	0.88[ASN][1000 genomes]
rs1202229	0.90[MEX][hapmap]
rs1202235	0.84[ASN][1000 genomes]
rs1202236	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1202237	0.93[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1962103	0.81[CEU][hapmap]
rs1991757	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2141823	0.85[ASW][hapmap];0.84[GIH][hapmap];0.88[LWK][hapmap]
rs2178628	0.96[LWK][hapmap]
rs2341587	0.85[MEX][hapmap]
rs2464614	0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.92[ASN][1000 genomes]
rs2705606	0.82[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs9791974	0.96[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv887334	chr7:3531275-3635105	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1023888	chr7:3539750-3638242	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034298	chr7:3539750-3646251	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv830888	chr7:3577214-3776276	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1792280	chr7:3592290-3668229	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2757205	chr7:3602348-3630349	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2759501	chr7:3602348-3630349	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1017012	chr7:3602397-3638242	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv538679	chr7:3602397-3638242	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv605909	chr7:3605340-3638547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2752641	chr7:3609495-3631115	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2752926	chr7:3609712-3631115	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv2754251	chr7:3609712-3631115	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv948390	chr7:3609821-3734421	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1033415	chr7:3616095-3753563	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv538680	chr7:3616095-3753563	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1016930	chr7:3627295-3705057	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2614967	LOC389458	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3617600-3630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3624200-3628600	Weak transcription	Pancreas	Pancrea
3	chr7:3625600-3630800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:3625600-3631000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:3625800-3630600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:3625800-3630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:3625800-3631000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:3625800-3631200	Weak transcription	Stomach Mucosa	stomach
9	chr7:3625800-3631400	Weak transcription	Brain Germinal Matrix	brain
10	chr7:3625800-3631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:3625800-3632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:3625800-3632600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:3626000-3631000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:3626000-3631000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:3626600-3630400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:3626600-3630800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:3626600-3632200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:3626800-3631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:3627400-3631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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