Variant report

Variant	rs113918401
Chromosome Location	chr8:48877775-48877776
allele	-/A
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	chr8:48877664-48879326	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr8:48877529-48877775	K562	blood:	n/a	n/a
3	POLR2A	chr8:48877677-48878221	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr8:48877519-48878213	K562	blood:	n/a	n/a
5	POLR2A	chr8:48877728-48879288	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	chr8:48874200-48877800	Weak transcription	Aorta	Aorta
2	chr8:48874400-48877800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:48874400-48877800	Weak transcription	Ovary	ovary
4	chr8:48874400-48878000	Weak transcription	Colonic Mucosa	Colon
5	chr8:48874400-48878000	Weak transcription	Psoas Muscle	Psoas
6	chr8:48874400-48878600	Weak transcription	HSMMtube	muscle
7	chr8:48874400-48881600	Weak transcription	Right Atrium	heart
8	chr8:48874400-48888800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:48874600-48877800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:48874600-48878000	Weak transcription	Brain Substantia Nigra	brain
11	chr8:48874600-48878200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:48874600-48879600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:48874600-48888800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:48874600-48891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:48874600-48891800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:48874800-48877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:48874800-48877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:48874800-48877800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:48874800-48877800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:48874800-48877800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:48874800-48877800	Weak transcription	Esophagus	oesophagus
22	chr8:48874800-48877800	Weak transcription	Fetal Brain Female	brain
23	chr8:48874800-48877800	Weak transcription	Gastric	stomach
24	chr8:48874800-48877800	Weak transcription	Right Ventricle	heart
25	chr8:48874800-48877800	Weak transcription	Spleen	Spleen
26	chr8:48874800-48878000	Weak transcription	Primary T cells from cord blood	blood
27	chr8:48874800-48878000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:48874800-48878200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:48874800-48878400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:48874800-48890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:48874800-48890400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:48874800-48890800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:48874800-48890800	Strong transcription	Placenta	Placenta
34	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
35	chr8:48875000-48877800	Weak transcription	Small Intestine	intestine
36	chr8:48875000-48877800	Weak transcription	NHLF	lung
37	chr8:48875000-48878000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:48875000-48878000	Weak transcription	Fetal Brain Male	brain
39	chr8:48875000-48878400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:48875000-48879400	Weak transcription	Fetal Heart	heart
41	chr8:48875000-48882000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:48875000-48887600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr8:48875000-48887800	Strong transcription	Osteobl	bone
44	chr8:48875000-48888400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:48875000-48890200	Strong transcription	HSMM	muscle
46	chr8:48875000-48891400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr8:48875000-48891400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:48875000-48891400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:48875000-48891600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr8:48875000-48891600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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