Variant report

Variant	rs61424257
Chromosome Location	chr8:103317890-103317891
allele	C/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	POLR2A	chr8:103317687-103318186	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:103317485-103318274	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103304151..103307358-chr8:103314933..103318460,5	MCF-7	breast:
2	chr17:56707742..56710113-chr8:103317617..103319699,2	MCF-7	breast:
3	chr8:103250549..103252806-chr8:103316215..103317935,2	MCF-7	breast:
4	chr8:103302801..103305090-chr8:103317702..103319684,2	K562	blood:

Variant related genes	Relation type
UBR5	TF binding region
ENSG00000048392	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13262662	0.83[AFR][1000 genomes]
rs36178006	0.85[AFR][1000 genomes]
rs4483125	0.85[AFR][1000 genomes]
rs59572423	0.85[AFR][1000 genomes]
rs59729747	1.00[AFR][1000 genomes]
rs60265889	1.00[AFR][1000 genomes]
rs60276445	1.00[AFR][1000 genomes]
rs60794914	1.00[AFR][1000 genomes]
rs73697220	0.81[AFR][1000 genomes]
rs73698724	1.00[AFR][1000 genomes]
rs73698727	1.00[AFR][1000 genomes]
rs73698738	0.90[AFR][1000 genomes]
rs73698788	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:103296600-103327000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:103299800-103327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:103299800-103329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:103300000-103326200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:103300000-103327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:103300000-103328200	Strong transcription	HSMM	muscle
20	chr8:103300000-103328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:103300200-103327000	Strong transcription	Adipose Nuclei	Adipose
25	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
26	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:103300400-103326200	Strong transcription	Primary T cells from cord blood	blood
28	chr8:103300400-103327400	Strong transcription	Liver	Liver
29	chr8:103300400-103327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:103300800-103327200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:103300800-103327600	Strong transcription	Placenta	Placenta
33	chr8:103300800-103328200	Strong transcription	Dnd41	blood
34	chr8:103301000-103327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:103301800-103326400	Strong transcription	Fetal Lung	lung
36	chr8:103301800-103327000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:103301800-103327200	Strong transcription	NH-A	brain
38	chr8:103301800-103327400	Strong transcription	K562	blood
39	chr8:103302000-103318400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:103302000-103320400	Strong transcription	HMEC	breast
41	chr8:103302200-103320200	Strong transcription	HepG2	liver
42	chr8:103302600-103327200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:103303200-103327200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:103303400-103327200	Strong transcription	Osteobl	bone
45	chr8:103303800-103327200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:103304000-103328000	Strong transcription	Primary B cells from cord blood	blood
47	chr8:103304400-103328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:103304600-103329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:103304800-103320000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:103304800-103320200	Strong transcription	NHDF-Ad	bronchial

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