Variant report

Variant	rs2513878
Chromosome Location	chr8:103936856-103936857
allele	A/C
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	MAFK	chr8:103936851-103937902	IMR90	lung:	n/a	chr8:103937226-103937235 chr8:103937226-103937236
2	NFIC	chr8:103936777-103937603	GM12878	blood:	n/a	n/a
3	SPI1	chr8:103936744-103937394	GM12878	blood:	n/a	n/a
4	SPI1	chr8:103936852-103937216	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103936608..103938218-chr8:104032062..104033919,2	MCF-7	breast:
2	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
3	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
4	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
5	chr8:103936331..103939322-chr8:103948640..103950158,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
RPL5P24	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv981972	chr8:103935652-103937242	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2082751	chr8:103936851-103936857	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1365962	chr8:103936854-103936860	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv387937	chr8:103936855-103936860	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103926400-103937400	Weak transcription	Lung	lung
2	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103930000-103938000	Weak transcription	Gastric	stomach
5	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
7	chr8:103932000-103937200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
10	chr8:103932400-103937000	Weak transcription	Aorta	Aorta
11	chr8:103932400-103937200	Weak transcription	Placenta	Placenta
12	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:103932600-103937200	Weak transcription	Small Intestine	intestine
14	chr8:103932800-103937200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:103932800-103937400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:103932800-103938800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:103932800-103939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:103932800-103939600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:103933000-103937200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:103933000-103937200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:103933000-103937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:103933000-103937200	Weak transcription	Right Atrium	heart
23	chr8:103933000-103937400	Weak transcription	Pancreas	Pancrea
24	chr8:103933000-103939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:103933200-103937000	Weak transcription	Fetal Intestine Large	intestine
26	chr8:103933200-103937000	Weak transcription	Ovary	ovary
27	chr8:103933200-103937200	Weak transcription	Right Ventricle	heart
28	chr8:103933400-103937000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:103933400-103937000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:103933400-103937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:103933400-103937200	Weak transcription	Stomach Mucosa	stomach
32	chr8:103933400-103940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:103933600-103937200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:103934200-103937000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:103934600-103937000	Weak transcription	Adipose Nuclei	Adipose
36	chr8:103934600-103937000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:103934800-103941400	Weak transcription	Liver	Liver
38	chr8:103935000-103937400	Weak transcription	HepG2	liver
39	chr8:103935400-103937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:103935800-103937000	Enhancers	A549	lung
41	chr8:103935800-103937200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:103935800-103937200	Enhancers	NHLF	lung
43	chr8:103935800-103938200	Enhancers	Fetal Lung	lung
44	chr8:103936000-103937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:103936000-103938200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:103936200-103938200	Enhancers	Fetal Stomach	stomach
47	chr8:103936200-103938800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:103936400-103938200	Enhancers	NHDF-Ad	bronchial
49	chr8:103936600-103937000	Enhancers	Osteobl	bone
50	chr8:103936600-103937200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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