Variant report

Variant	rs34612546
Chromosome Location	chr8:104243474-104243475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr8:104243295-104243897	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104224914..104226448-chr8:104241581..104244349,2	MCF-7	breast:
2	chr8:104242810..104245479-chr8:104246460..104249581,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253851	TF binding region
ENSG00000164929	Chromatin interaction

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

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

rs_ID	r²[population]
rs10100382	1.00[ASN][1000 genomes]
rs10106795	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10113161	0.93[EUR][1000 genomes]
rs1032471	1.00[ASN][1000 genomes]
rs17793532	0.94[EUR][1000 genomes]
rs28735228	0.94[EUR][1000 genomes]
rs34893881	1.00[ASN][1000 genomes]
rs7013734	1.00[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104227600-104245400	Weak transcription	Fetal Brain Male	brain
2	chr8:104238400-104245200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:104240800-104243600	Enhancers	Fetal Heart	heart
4	chr8:104241600-104243600	Enhancers	Dnd41	blood
5	chr8:104242000-104245200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:104242400-104251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:104242400-104251200	Weak transcription	HMEC	breast
8	chr8:104242600-104243600	Strong transcription	Brain Angular Gyrus	brain
9	chr8:104242600-104245600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:104242800-104243600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:104242800-104243600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr8:104242800-104243600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:104242800-104244000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr8:104242800-104245400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:104242800-104250200	Weak transcription	Fetal Brain Female	brain
16	chr8:104243000-104243600	ZNF genes & repeats	Spleen	Spleen
17	chr8:104243000-104243800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104243000-104243800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:104243000-104244200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:104243000-104244200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr8:104243000-104244200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:104243200-104243600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr8:104243200-104243800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:104243200-104243800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:104243200-104243800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
26	chr8:104243200-104243800	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr8:104243200-104243800	ZNF genes & repeats	NHLF	lung
28	chr8:104243200-104243800	Strong transcription	Osteobl	bone
29	chr8:104243200-104244000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:104243200-104248600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:104243400-104243600	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr8:104243400-104243800	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr8:104243400-104243800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr8:104243400-104243800	Weak transcription	Fetal Stomach	stomach
35	chr8:104243400-104243800	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr8:104243400-104244000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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