Variant report

Variant	rs7795140
Chromosome Location	chr7:121169049-121169050
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	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
2	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10228676	0.83[ASN][1000 genomes]
rs10233243	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10237611	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10240973	0.83[ASN][1000 genomes]
rs10253256	0.83[ASN][1000 genomes]
rs10258260	0.83[ASN][1000 genomes]
rs10258506	0.85[ASN][1000 genomes]
rs10258640	0.83[ASN][1000 genomes]
rs10270561	0.83[ASN][1000 genomes]
rs10480752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953936	0.82[ASN][1000 genomes]
rs11761290	0.83[ASN][1000 genomes]
rs11982466	0.83[CHB][hapmap]
rs1206560	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12535189	0.98[ASN][1000 genomes]
rs12540408	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706358	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13229583	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1358498	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs1406194	0.83[ASN][1000 genomes]
rs1528352	0.94[ASN][1000 genomes]
rs17132759	0.87[CHB][hapmap]
rs17143547	0.87[CHB][hapmap]
rs17143550	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs1881374	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1881375	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1881376	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1919086	0.82[ASN][1000 genomes]
rs1983493	0.82[ASN][1000 genomes]
rs1983494	0.83[ASN][1000 genomes]
rs1983495	0.85[ASN][1000 genomes]
rs1983496	0.83[ASN][1000 genomes]
rs2049701	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2049702	0.93[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2103298	0.83[ASN][1000 genomes]
rs2103299	0.83[ASN][1000 genomes]
rs2141364	0.83[ASN][1000 genomes]
rs2178188	0.83[ASN][1000 genomes]
rs28485397	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696257	0.83[ASN][1000 genomes]
rs34843814	0.81[ASN][1000 genomes]
rs3847091	0.83[ASN][1000 genomes]
rs3847092	0.83[ASN][1000 genomes]
rs3857836	0.83[ASN][1000 genomes]
rs4145963	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4727933	0.94[ASN][1000 genomes]
rs4731023	0.83[ASN][1000 genomes]
rs4731024	0.83[ASN][1000 genomes]
rs4731025	0.85[ASN][1000 genomes]
rs5000108	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs5000110	0.87[CHB][hapmap]
rs5000111	0.87[CHB][hapmap]
rs5000112	0.87[CHB][hapmap]
rs5000113	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs5000114	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5000115	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs5000116	0.86[CHB][hapmap]
rs6466797	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs6953922	0.88[ASN][1000 genomes]
rs6954048	0.81[ASN][1000 genomes]
rs6960065	0.83[ASN][1000 genomes]
rs736411	0.87[CHB][hapmap]
rs736412	0.87[CHB][hapmap]
rs7777295	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.85[ASN][1000 genomes]
rs7777787	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7787312	0.83[ASN][1000 genomes]
rs7791746	0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs7793736	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs867706	0.83[ASN][1000 genomes]
rs9649443	0.97[ASN][1000 genomes]
rs9719308	0.90[ASN][1000 genomes]
rs9719756	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1015438	chr7:121161554-121221761	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv824290	chr7:121161692-121179342	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv824291	chr7:121161896-121179567	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1811558	chr7:121161987-121186293	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv442067	chr7:121161987-121186293	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv518821	chr7:121165809-121177396	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv981412	chr7:121167728-121169501	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7795140	POT1	cis	cerebellum	SCAN
rs7795140	MAMLD1	trans	cerebellum	SCAN
rs7795140	GPR37	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121162800-121170400	Weak transcription	Fetal Brain Male	brain
2	chr7:121165600-121170000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:121165800-121170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:121166200-121169600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:121167800-121169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:121168000-121170000	Weak transcription	Stomach Mucosa	stomach
7	chr7:121168800-121169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:121168800-121170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:121168800-121170000	Enhancers	HSMM	muscle
10	chr7:121168800-121170000	Enhancers	NHDF-Ad	bronchial
11	chr7:121169000-121169200	Enhancers	HMEC	breast
12	chr7:121169000-121170000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:121169000-121171600	Enhancers	HUVEC	blood vessel
14	chr7:121169000-121171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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