Variant report

Variant	rs35969173
Chromosome Location	chr8:103319058-103319059
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	chr8:103318590-103319405	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56707742..56710113-chr8:103317617..103319699,2	MCF-7	breast:
2	chr8:103302801..103305090-chr8:103317702..103319684,2	K562	blood:

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10505020	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955287	1.00[AFR][1000 genomes]
rs12707772	0.81[EUR][1000 genomes]
rs13248603	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13249865	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250998	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259151	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262662	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13263132	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269311	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270908	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278798	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2061299	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927991	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999669	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270914	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34278087	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34279135	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34351006	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34356268	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34730203	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34976508	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35166521	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35316247	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35558370	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818724	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35873559	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35980679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178006	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003023	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572423	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71518852	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518861	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71518862	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7845877	0.88[EUR][1000 genomes]
rs9650000	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650001	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650002	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103296600-103327000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:103299800-103327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:103299800-103329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:103300000-103326200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:103300000-103327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:103300000-103328200	Strong transcription	HSMM	muscle
19	chr8:103300000-103328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:103300200-103327000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
25	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:103300400-103326200	Strong transcription	Primary T cells from cord blood	blood
27	chr8:103300400-103327400	Strong transcription	Liver	Liver
28	chr8:103300400-103327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:103300800-103327200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:103300800-103327600	Strong transcription	Placenta	Placenta
32	chr8:103300800-103328200	Strong transcription	Dnd41	blood
33	chr8:103301000-103327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:103301800-103326400	Strong transcription	Fetal Lung	lung
35	chr8:103301800-103327000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:103301800-103327200	Strong transcription	NH-A	brain
37	chr8:103301800-103327400	Strong transcription	K562	blood
38	chr8:103302000-103320400	Strong transcription	HMEC	breast
39	chr8:103302200-103320200	Strong transcription	HepG2	liver
40	chr8:103302600-103327200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:103303200-103327200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:103303400-103327200	Strong transcription	Osteobl	bone
43	chr8:103303800-103327200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:103304000-103328000	Strong transcription	Primary B cells from cord blood	blood
45	chr8:103304400-103328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:103304600-103329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:103304800-103320000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr8:103304800-103320200	Strong transcription	NHDF-Ad	bronchial
49	chr8:103304800-103320800	Strong transcription	NHLF	lung
50	chr8:103304800-103326800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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