Variant report

Variant	rs8097565
Chromosome Location	chr18:44290304-44290305
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	chr18:44290160..44292978-chr18:44295020..44296704,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2155987	0.85[ASN][1000 genomes]
rs4402660	0.84[ASN][1000 genomes]
rs4890686	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs71364560	0.80[ASN][1000 genomes]
rs71364562	0.83[ASN][1000 genomes]
rs7229344	0.88[ASN][1000 genomes]
rs7232509	0.85[ASN][1000 genomes]
rs948570	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44253000-44291400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr18:44285200-44291600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr18:44286800-44290600	Weak transcription	Left Ventricle	heart
4	chr18:44286800-44291600	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:44286800-44291600	Weak transcription	Brain Substantia Nigra	brain
6	chr18:44286800-44298800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:44287200-44290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:44287200-44291000	Weak transcription	Brain Angular Gyrus	brain
9	chr18:44287400-44291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:44287400-44291800	Weak transcription	NHLF	lung
11	chr18:44287600-44290600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:44287600-44291400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:44287600-44291400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:44287800-44298800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:44288000-44291200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:44288000-44291400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:44288400-44291000	Weak transcription	NHDF-Ad	bronchial
18	chr18:44288400-44292000	Weak transcription	Brain Germinal Matrix	brain
19	chr18:44288600-44291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:44289000-44291000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr18:44289800-44291000	Enhancers	Fetal Heart	heart
22	chr18:44290000-44293600	Enhancers	Psoas Muscle	Psoas
23	chr18:44290000-44295400	Enhancers	Fetal Muscle Leg	muscle

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