Variant report

Variant	rs7606376
Chromosome Location	chr2:38753337-38753338
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	chr2:38740787..38742664-chr2:38753203..38755236,2	MCF-7	breast:
2	chr2:38748763..38750578-chr2:38752263..38755021,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12105827	0.90[ASN][1000 genomes]
rs12622497	0.81[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs12622526	0.88[EUR][1000 genomes]
rs12993657	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996029	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs13003268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004207	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13008970	0.99[ASN][1000 genomes]
rs13011825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017981	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13033060	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13382384	0.87[EUR][1000 genomes]
rs13383838	0.87[EUR][1000 genomes]
rs1540436	1.00[JPT][hapmap]
rs17421378	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs17421399	0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs17421503	0.81[JPT][hapmap]
rs17421743	0.81[JPT][hapmap]
rs17493321	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17493363	0.81[JPT][hapmap]
rs17493370	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs17493419	0.90[JPT][hapmap]
rs17493538	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs17493573	0.81[JPT][hapmap]
rs17603796	0.81[JPT][hapmap]
rs1864828	0.81[JPT][hapmap]
rs34171322	0.87[ASN][1000 genomes]
rs34218951	0.86[ASN][1000 genomes]
rs34311924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355269	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34655983	0.97[ASN][1000 genomes]
rs35066504	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35120096	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35275207	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35299812	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35704960	0.97[ASN][1000 genomes]
rs35789272	0.97[ASN][1000 genomes]
rs35803605	0.87[ASN][1000 genomes]
rs3731843	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4268910	0.81[JPT][hapmap]
rs59239099	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6544170	0.82[CHD][hapmap]
rs72795132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574556	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7584009	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7592090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7606253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934394	0.90[JPT][hapmap]
rs934395	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv527492	chr2:38753337-38759797	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:38750600-38753400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:38750800-38755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:38750800-38755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:38751000-38755000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38751000-38755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:38751000-38755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:38751200-38755000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:38751200-38762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:38751800-38754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:38751800-38755200	Weak transcription	Aorta	Aorta
12	chr2:38751800-38755200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:38752200-38755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:38752200-38755000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:38752200-38755000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:38752200-38755000	Weak transcription	Psoas Muscle	Psoas
17	chr2:38752200-38755200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:38752200-38755200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:38752200-38755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:38752200-38760200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:38752400-38753400	Weak transcription	Ovary	ovary
22	chr2:38752400-38753400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:38752400-38755000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:38752400-38755000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:38752600-38753400	Enhancers	NHDF-Ad	bronchial
26	chr2:38752600-38754400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:38752600-38754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:38752800-38754600	Weak transcription	NHLF	lung
29	chr2:38753000-38753400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:38753000-38753400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:38753000-38753800	Enhancers	Osteobl	bone
32	chr2:38753000-38754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:38753200-38753400	Weak transcription	Adipose Nuclei	Adipose

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