Variant report

Variant	rs10097627
Chromosome Location	chr8:48871773-48871774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:48871379-48871825	GM12878	blood:	n/a	n/a
2	MXI1	chr8:48871764-48871839	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:48871491-48872100	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr8:48871731-48871844	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:48871216-48871958	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr8:48871655-48871825	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr8:48871662-48871792	K562	blood:	n/a	n/a
8	POLR2A	chr8:48871243-48872026	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
2	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
3	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
4	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
5	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
6	chr15:65587346..65589708-chr8:48871280..48874133,2	MCF-7	breast:
7	chr8:48870534..48872766-chr8:48885611..48888462,2	MCF-7	breast:

No data

Variant related genes	Relation type
MCM4	TF binding region
ENSG00000253729	Chromatin interaction
ENSG00000104738	Chromatin interaction
ENSG00000169139	Chromatin interaction
ENSG00000199568	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10958450	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17287635	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824124	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45480301	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45492298	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45498198	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45588533	1.00[EUR][1000 genomes]
rs7833492	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8178050	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8178085	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8178118	1.00[EUR][1000 genomes]
rs9792194	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48857600-48871800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:48857800-48871800	Weak transcription	Stomach Mucosa	stomach
3	chr8:48865200-48872200	Weak transcription	Fetal Heart	heart
4	chr8:48866400-48872000	Weak transcription	Small Intestine	intestine
5	chr8:48867200-48872000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:48869000-48872200	Weak transcription	Aorta	Aorta
7	chr8:48869200-48871800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:48869200-48872000	Weak transcription	Esophagus	oesophagus
9	chr8:48869200-48872200	Weak transcription	Gastric	stomach
10	chr8:48869400-48871800	Weak transcription	Fetal Stomach	stomach
11	chr8:48869400-48872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:48869400-48872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48869400-48872200	Weak transcription	Pancreas	Pancrea
14	chr8:48870600-48871800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48870600-48871800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:48870600-48874200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:48870600-48874600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:48870600-48874600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:48870800-48871800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:48870800-48871800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:48870800-48871800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:48870800-48872000	Flanking Active TSS	NHEK	skin
23	chr8:48870800-48874000	Active TSS	GM12878-XiMat	blood
24	chr8:48871000-48871800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:48871000-48871800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:48871000-48871800	Enhancers	Liver	Liver
27	chr8:48871000-48873200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:48871000-48874000	Active TSS	HMEC	breast
29	chr8:48871000-48874200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:48871200-48871800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:48871200-48871800	Enhancers	Colon Smooth Muscle	Colon
32	chr8:48871200-48871800	Enhancers	Fetal Brain Male	brain
33	chr8:48871200-48871800	Weak transcription	Placenta	Placenta
34	chr8:48871200-48872200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:48871200-48874000	Active TSS	A549	lung
36	chr8:48871200-48874000	Active TSS	NHDF-Ad	bronchial
37	chr8:48871200-48874200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:48871200-48874200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr8:48871200-48874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:48871200-48874600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:48871400-48871800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:48871400-48871800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:48871400-48871800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:48871400-48871800	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:48871400-48871800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
46	chr8:48871400-48871800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:48871400-48871800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:48871400-48871800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:48871400-48871800	Enhancers	Brain Anterior Caudate	brain
50	chr8:48871400-48871800	Enhancers	Fetal Muscle Trunk	muscle

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