Variant report

Variant	rs535018085
Chromosome Location	chr8:1685300-1685301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1684817..1688387-chr8:1693951..1696420,3	K562	blood:
2	chr8:1683723..1685599-chr8:1688819..1690722,2	K562	blood:
3	chr8:1684038..1686561-chr8:1711084..1712733,2	MCF-7	breast:
4	chr8:1681316..1685438-chr8:1724958..1729595,5	K562	blood:
5	chr8:1683414..1685975-chr8:1702028..1704859,2	MCF-7	breast:
6	chr8:1681796..1686732-chr8:1704250..1709938,6	K562	blood:
7	chr8:1684265..1686317-chr8:1693828..1695451,2	K562	blood:

Variant related genes	Relation type
ENSG00000253982	Chromatin interaction
ENSG00000182372	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465274	chr8:1685064-1728292	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv609528	chr8:1685064-1728292	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1682800-1685600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1683400-1686400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:1683600-1686200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:1683600-1686200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:1683800-1686200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:1683800-1686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:1683800-1686600	Enhancers	HUVEC	blood vessel
8	chr8:1684000-1685600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:1684000-1685600	Weak transcription	Osteobl	bone
10	chr8:1684000-1685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:1684000-1686200	Enhancers	GM12878-XiMat	blood
12	chr8:1684200-1685600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:1684200-1685600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:1684200-1685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:1684200-1685800	Weak transcription	K562	blood
16	chr8:1684200-1686000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1684200-1686000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:1684200-1686000	Enhancers	Adipose Nuclei	Adipose
19	chr8:1684200-1686000	Enhancers	Fetal Thymus	thymus
20	chr8:1684200-1686400	Enhancers	NH-A	brain
21	chr8:1684400-1685600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:1684400-1685600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:1684400-1685600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:1684400-1686000	Weak transcription	HSMMtube	muscle
25	chr8:1684600-1685600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:1684800-1685800	Weak transcription	Left Ventricle	heart
27	chr8:1684800-1686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:1684800-1686400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:1685000-1685400	Weak transcription	Placenta	Placenta
30	chr8:1685000-1685600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:1685200-1692400	Weak transcription	Brain Substantia Nigra	brain

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