Variant report

Variant	rs246377
Chromosome Location	chr5:103254708-103254709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13184959	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs246375	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs246376	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34253	0.85[EUR][1000 genomes]
rs35884418	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs756494	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7723921	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7736954	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882523	chr5:102687151-103342745	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv599195	chr5:102982978-103296777	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830432	chr5:103088161-103280243	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv462327	chr5:103228629-103258936	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv599198	chr5:103228629-103258936	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv882524	chr5:103237745-104019292	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv462329	chr5:103244640-103264987	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv599199	chr5:103244640-103264987	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv599200	chr5:103249714-103277997	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103250600-103255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:103252800-103255000	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:103252800-103259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:103254000-103255200	Enhancers	Osteobl	bone
5	chr5:103254000-103255400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:103254000-103255400	Enhancers	HSMMtube	muscle
7	chr5:103254000-103255400	Enhancers	NH-A	brain
8	chr5:103254000-103255600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:103254200-103254800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:103254200-103255000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:103254200-103255000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:103254200-103255000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:103254200-103255000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:103254200-103255200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:103254200-103255400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:103254200-103255400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:103254200-103255400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:103254200-103255400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:103254200-103255400	Enhancers	HSMM	muscle
20	chr5:103254200-103255600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:103254400-103255000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:103254400-103255000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:103254400-103255200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:103254400-103255200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:103254400-103255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:103254400-103255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:103254400-103255600	Enhancers	Fetal Kidney	kidney
28	chr5:103254600-103255200	Enhancers	NHLF	lung

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