Variant report

Variant	rs2880159
Chromosome Location	chr7:3937720-3937721
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	chr7:2904504..2905327-chr7:3936730..3937942,4	K562	blood:
2	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10085400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10085568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1013880	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10215004	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215340	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10228397	0.87[ASN][1000 genomes]
rs10241703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10242459	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10243770	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10244636	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10245389	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10246449	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10249255	0.98[ASN][1000 genomes]
rs10250659	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10252169	0.82[JPT][hapmap]
rs10254099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10256741	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10262942	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263496	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10267786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10273444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10479833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10479834	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10485864	0.87[ASN][1000 genomes]
rs10951315	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10951322	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10951336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10951368	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11514766	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971293	0.97[ASN][1000 genomes]
rs11973090	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11973380	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11974190	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11974357	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976915	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11977993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11980947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982345	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11983563	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12112335	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12531046	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12531980	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12532040	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12532171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12532912	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12533946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12537696	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12538997	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12540101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12690803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12690804	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12701219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12701221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12701229	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12701262	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12701271	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12701272	0.97[ASN][1000 genomes]
rs13221624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13236653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13236719	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13245096	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1476644	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1548612	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17133859	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs17261199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1962783	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1962784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1962785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2007554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2057919	0.85[ASN][1000 genomes]
rs2057920	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2057921	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2079376	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079377	0.85[ASN][1000 genomes]
rs2079378	0.82[ASN][1000 genomes]
rs2097899	0.82[ASN][1000 genomes]
rs2341959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28491320	0.85[ASN][1000 genomes]
rs2880204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28845270	0.85[ASN][1000 genomes]
rs34730154	0.87[ASN][1000 genomes]
rs41873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4431501	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6462361	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6462401	0.93[CEU][hapmap]
rs6462407	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6462411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6462412	0.85[ASN][1000 genomes]
rs6462413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6462423	0.87[ASN][1000 genomes]
rs6462447	0.87[CEU][hapmap];0.80[ASN][1000 genomes]
rs6944393	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6945778	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6948552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6952864	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6953282	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6953604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6953707	0.97[ASN][1000 genomes]
rs6954370	0.85[ASN][1000 genomes]
rs6955650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6956020	1.00[ASN][1000 genomes]
rs6956479	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6957166	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6958385	0.85[ASN][1000 genomes]
rs6958535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6959492	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6959674	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959835	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6961230	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6961561	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6962058	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6962389	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6962750	0.97[ASN][1000 genomes]
rs6963058	0.85[ASN][1000 genomes]
rs6963674	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6966030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6968148	0.85[ASN][1000 genomes]
rs6968267	0.85[ASN][1000 genomes]
rs6968272	0.85[ASN][1000 genomes]
rs6968444	0.85[ASN][1000 genomes]
rs6968948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6969052	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6970116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6971639	0.85[ASN][1000 genomes]
rs6971803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6971828	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6971873	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6971953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6972806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6973944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6975313	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6975723	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6977305	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6977844	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6978060	0.85[ASN][1000 genomes]
rs6978318	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6978964	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6979937	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6980085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7778705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7783415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7786556	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7794504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7800775	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7804166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7807003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7809616	0.89[ASN][1000 genomes]
rs874344	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs917198	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9655007	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9655343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9655347	0.87[ASN][1000 genomes]
rs9655348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9886069	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9886234	0.98[ASN][1000 genomes]
rs9986911	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1019190	chr7:3896634-3943566	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv519403	chr7:3932922-3939055	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3901200-3959600	Weak transcription	Pancreas	Pancrea
2	chr7:3906800-3949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3923000-3940000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3932600-3939200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:3932800-3939200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:3933000-3939200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:3935000-3940200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:3935200-3937800	Enhancers	Fetal Muscle Leg	muscle
9	chr7:3935800-3937800	Enhancers	Psoas Muscle	Psoas
10	chr7:3935800-3939400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:3936200-3939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:3936800-3974200	Weak transcription	Aorta	Aorta
13	chr7:3937400-3937800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:3937400-3938000	Enhancers	Fetal Heart	heart
15	chr7:3937400-3938200	Enhancers	HUVEC	blood vessel
16	chr7:3937400-3939000	Enhancers	NHEK	skin
17	chr7:3937400-3940400	Weak transcription	Fetal Brain Male	brain
18	chr7:3937600-3937800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:3937600-3937800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:3937600-3937800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:3937600-3937800	Enhancers	HSMM	muscle
22	chr7:3937600-3938000	Enhancers	Spleen	Spleen

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