Variant report

Variant	rs62290678
Chromosome Location	chr4:7658458-7658459
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	chr4:7656713..7658782-chr4:7660668..7662448,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62290673	0.89[EUR][1000 genomes]
rs62290674	0.89[EUR][1000 genomes]
rs62290675	0.89[EUR][1000 genomes]
rs62290677	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62290680	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62290702	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs886369	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3355080	chr4:7657152-7661650	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7649600-7659000	Enhancers	Ovary	ovary
2	chr4:7650000-7658600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:7651200-7658600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7651400-7658600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:7651400-7660400	Weak transcription	Colonic Mucosa	Colon
6	chr4:7651800-7658800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:7652400-7666000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:7654400-7659000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:7655000-7659400	Weak transcription	HepG2	liver
10	chr4:7655400-7658800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:7655600-7665200	Weak transcription	Spleen	Spleen
12	chr4:7656600-7658600	Enhancers	Brain Substantia Nigra	brain
13	chr4:7656600-7658800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:7656800-7658800	Enhancers	Brain Anterior Caudate	brain
15	chr4:7656800-7658800	Enhancers	Brain Cingulate Gyrus	brain
16	chr4:7656800-7660400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr4:7657000-7658600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:7657000-7659000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:7657200-7662400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:7657400-7670400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:7657600-7658800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:7657600-7659000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:7657600-7660400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:7657600-7662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:7657600-7663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:7657800-7659000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:7658000-7658600	Enhancers	Brain Germinal Matrix	brain
28	chr4:7658000-7659000	Enhancers	Brain Hippocampus Middle	brain
29	chr4:7658000-7662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:7658200-7662200	Weak transcription	Fetal Brain Female	brain
31	chr4:7658400-7659400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:7658400-7659400	Weak transcription	Brain Angular Gyrus	brain
33	chr4:7658400-7659800	Weak transcription	NH-A	brain
34	chr4:7658400-7660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:7658400-7662600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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