Variant report

Variant	rs17334388
Chromosome Location	chr8:48878772-48878773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:48878754-48878781	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:48878126-48879222	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:48878275-48878914	K562	blood:	n/a	n/a
4	POLR2A	chr8:48878641-48878928	GM12891	blood:	n/a	n/a
5	POLR2A	chr8:48878047-48879080	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:48878697-48879006	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:48878276-48879218	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:48877664-48879326	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr8:48878297-48879269	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:48877778-48879274	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:48878316-48878819	HL-60	blood:	n/a	n/a
12	POLR2A	chr8:48878578-48879447	K562	blood:	n/a	n/a
13	POLR2A	chr8:48878274-48879076	GM12892	blood:	n/a	n/a
14	POLR2A	chr8:48877777-48879067	K562	blood:	n/a	n/a
15	POLR2A	chr8:48878219-48879275	K562	blood:	n/a	n/a
16	POLR2A	chr8:48878406-48879228	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:48878684-48879318	GM12878	blood:	n/a	n/a
18	HEY1	chr8:48878497-48878908	K562	blood:	n/a	n/a
19	POLR2A	chr8:48878261-48878775	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:48878377-48879165	K562	blood:	n/a	n/a
21	POLR2A	chr8:48877728-48879288	GM12892	blood:	n/a	n/a
22	POLR2A	chr8:48878246-48878866	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr8:48878298-48879245	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:48877945-48878802	K562	blood:	n/a	n/a
25	POLR2A	chr8:48877789-48882849	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:48878282-48879148	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:48878679-48878966	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48878378..48881135-chr8:48887828..48890847,3	MCF-7	breast:
2	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17287656	1.00[GIH][hapmap]
rs7814219	1.00[GIH][hapmap]
rs8178009	1.00[GIH][hapmap]
rs8178019	1.00[YRI][hapmap]
rs8178057	0.89[GIH][hapmap]
rs8178098	0.90[GIH][hapmap]

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr8:48874400-48881600	Weak transcription	Right Atrium	heart
2	chr8:48874400-48888800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48874600-48879600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:48874600-48888800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:48874600-48891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:48874600-48891800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:48874800-48890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:48874800-48890400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:48874800-48890800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:48874800-48890800	Strong transcription	Placenta	Placenta
11	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
12	chr8:48875000-48879400	Weak transcription	Fetal Heart	heart
13	chr8:48875000-48882000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr8:48875000-48887600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr8:48875000-48887800	Strong transcription	Osteobl	bone
16	chr8:48875000-48888400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:48875000-48890200	Strong transcription	HSMM	muscle
18	chr8:48875000-48891400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:48875000-48891400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:48875000-48891400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48875000-48891600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr8:48875000-48891600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:48875000-48891600	Strong transcription	Fetal Stomach	stomach
24	chr8:48875000-48891800	Strong transcription	Fetal Intestine Small	intestine
25	chr8:48875000-48892200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:48875000-48892600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:48875000-48898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:48875200-48890400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:48875200-48890600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:48875200-48891600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:48875200-48892000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:48875200-48892200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:48875200-48892600	Strong transcription	Fetal Thymus	thymus
34	chr8:48875400-48884400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:48875400-48890600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:48875400-48890800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:48875400-48890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:48875400-48890800	Strong transcription	HMEC	breast
39	chr8:48875400-48891800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:48875400-48892000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:48875400-48892200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:48875400-48892200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:48875600-48880000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:48875600-48884400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:48875600-48890400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:48875600-48891600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:48875600-48892000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:48875600-48892200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:48875800-48879000	Strong transcription	NH-A	brain
50	chr8:48875800-48880600	Strong transcription	Rectal Mucosa Donor 31	rectum

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