Variant report

Variant	rs9649443
Chromosome Location	chr7:121167039-121167040
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:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10228676	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10233243	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10237611	0.95[ASN][1000 genomes]
rs10240973	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10253256	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258260	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10258506	0.84[ASN][1000 genomes]
rs10258640	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10259325	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10270561	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10480752	0.94[ASN][1000 genomes]
rs10953936	0.81[ASN][1000 genomes]
rs11761290	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206560	0.90[ASN][1000 genomes]
rs12535189	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12540408	0.97[ASN][1000 genomes]
rs12706358	0.86[ASN][1000 genomes]
rs13229583	0.95[ASN][1000 genomes]
rs1406194	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1528352	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881374	0.87[ASN][1000 genomes]
rs1881375	0.85[ASN][1000 genomes]
rs1881376	0.85[ASN][1000 genomes]
rs1919086	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1983493	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1983494	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1983495	0.84[ASN][1000 genomes]
rs1983496	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049702	0.84[ASN][1000 genomes]
rs2103298	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2103299	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2141364	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178188	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28485397	0.97[ASN][1000 genomes]
rs28578522	0.97[ASN][1000 genomes]
rs28696257	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34843814	0.80[ASN][1000 genomes]
rs3847091	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3847092	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857836	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4145963	0.92[ASN][1000 genomes]
rs4727933	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731023	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731024	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731025	0.84[ASN][1000 genomes]
rs5000114	0.90[ASN][1000 genomes]
rs6953922	0.88[ASN][1000 genomes]
rs6954048	0.81[ASN][1000 genomes]
rs6960065	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7777295	0.84[ASN][1000 genomes]
rs7777787	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787312	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791746	0.84[ASN][1000 genomes]
rs7793736	0.95[ASN][1000 genomes]
rs7795140	0.97[ASN][1000 genomes]
rs867706	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9719308	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9719756	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9719758	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121162400-121168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:121162800-121170400	Weak transcription	Fetal Brain Male	brain
3	chr7:121165600-121170000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:121165800-121168800	Weak transcription	NHDF-Ad	bronchial
5	chr7:121165800-121169000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:121165800-121170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:121166200-121168800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:121166200-121169600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:121167000-121167800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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