Variant report

Variant	rs4948086
Chromosome Location	chr7:51026678-51026679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:51025823..51027586-chr7:51027677..51030856,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1016431	0.95[AMR][1000 genomes]
rs1016432	0.95[AMR][1000 genomes]
rs1018941	1.00[AMR][1000 genomes]
rs1018942	1.00[AMR][1000 genomes]
rs1018979	1.00[AMR][1000 genomes]
rs1018980	1.00[AMR][1000 genomes]
rs1024472	0.90[AMR][1000 genomes]
rs10262964	0.90[AMR][1000 genomes]
rs1074570	0.95[AMR][1000 genomes]
rs1074571	0.95[AMR][1000 genomes]
rs11765215	1.00[AMR][1000 genomes]
rs12534954	0.90[AMR][1000 genomes]
rs13310888	0.90[AMR][1000 genomes]
rs1859264	0.90[AMR][1000 genomes]
rs1859265	0.81[AMR][1000 genomes]
rs1859477	1.00[AMR][1000 genomes]
rs1989265	1.00[AMR][1000 genomes]
rs2023879	0.82[AMR][1000 genomes]
rs2189428	0.81[AMR][1000 genomes]
rs2189429	0.81[AMR][1000 genomes]
rs2189822	0.95[AMR][1000 genomes]
rs2214494	0.90[AMR][1000 genomes]
rs2214495	0.85[AMR][1000 genomes]
rs2214497	0.81[AMR][1000 genomes]
rs2329566	0.95[AMR][1000 genomes]
rs2329568	0.95[AMR][1000 genomes]
rs2329569	0.90[AMR][1000 genomes]
rs2876901	0.95[AMR][1000 genomes]
rs4947530	1.00[AMR][1000 genomes]
rs4948088	1.00[AMR][1000 genomes]
rs4948146	0.81[AMR][1000 genomes]
rs6943902	0.90[AMR][1000 genomes]
rs6971609	0.86[AMR][1000 genomes]
rs6979183	0.90[AMR][1000 genomes]
rs720068	1.00[AMR][1000 genomes]
rs7776597	0.95[AMR][1000 genomes]
rs7780389	0.95[AMR][1000 genomes]
rs7790800	0.95[AMR][1000 genomes]
rs7800611	0.95[AMR][1000 genomes]
rs7803628	1.00[AMR][1000 genomes]
rs886437	0.81[AMR][1000 genomes]
rs917072	0.95[AMR][1000 genomes]
rs917073	1.00[AMR][1000 genomes]
rs976088	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv508453	chr7:50963780-51030439	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51020200-51028400	Enhancers	HUVEC	blood vessel
2	chr7:51020600-51030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:51021000-51030600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:51021800-51030000	Weak transcription	Esophagus	oesophagus
5	chr7:51022000-51029800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:51022200-51027400	Weak transcription	HSMM	muscle
7	chr7:51022200-51029800	Weak transcription	Hela-S3	cervix
8	chr7:51022200-51030000	Weak transcription	A549	lung
9	chr7:51022800-51029200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:51022800-51030000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:51023000-51028400	Weak transcription	Spleen	Spleen
12	chr7:51023000-51029200	Weak transcription	Lung	lung
13	chr7:51023000-51030000	Weak transcription	Left Ventricle	heart
14	chr7:51024000-51030600	Weak transcription	Gastric	stomach
15	chr7:51024600-51027200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:51025400-51030000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:51025800-51028600	Weak transcription	Pancreas	Pancrea
18	chr7:51025800-51031400	Enhancers	HSMMtube	muscle
19	chr7:51026000-51030200	Weak transcription	HepG2	liver

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