Variant report

Variant	rs4520184
Chromosome Location	chr8:19706172-19706173
allele	A/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	chr8:19704018-19712772	K562	blood:	n/a	n/a
2	POLR2A	chr8:19704884-19706953	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19689284..19692262-chr8:19703834..19706255,2	K562	blood:
2	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000104613	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4244456	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4599828	0.96[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19676000-19710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:19676600-19707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:19676600-19707800	Strong transcription	Osteobl	bone
4	chr8:19676800-19707400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:19677000-19706200	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:19677000-19706800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr8:19677000-19707000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr8:19677000-19710600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:19677200-19706800	Strong transcription	Fetal Thymus	thymus
10	chr8:19677200-19707000	Strong transcription	Adipose Nuclei	Adipose
11	chr8:19677200-19707800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:19677200-19710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:19677200-19710400	Strong transcription	Placenta	Placenta
14	chr8:19677200-19710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:19677400-19707000	Strong transcription	Dnd41	blood
16	chr8:19677400-19707200	Strong transcription	Primary T cells from cord blood	blood
17	chr8:19677400-19708400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:19677400-19710400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:19677400-19710800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:19677600-19706600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:19677600-19707000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr8:19677600-19709400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:19677800-19706800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:19679000-19706800	Strong transcription	HepG2	liver
25	chr8:19679200-19710400	Strong transcription	Liver	Liver
26	chr8:19683600-19710200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:19684400-19711400	Strong transcription	A549	lung
28	chr8:19687400-19706800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:19687600-19706800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:19687600-19709400	Strong transcription	Hela-S3	cervix
31	chr8:19692400-19710200	Weak transcription	Colonic Mucosa	Colon
32	chr8:19692600-19712000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:19697200-19711800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:19697400-19711400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:19698000-19706800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:19699400-19706400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:19700000-19714000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:19700200-19711400	Weak transcription	Fetal Brain Male	brain
39	chr8:19700800-19711200	Strong transcription	Fetal Stomach	stomach
40	chr8:19701400-19706200	Weak transcription	Ovary	ovary
41	chr8:19701400-19706600	Strong transcription	Fetal Brain Female	brain
42	chr8:19701400-19706800	Strong transcription	NHLF	lung
43	chr8:19701600-19706200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:19701600-19706200	Weak transcription	Right Ventricle	heart
45	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
46	chr8:19702000-19711400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:19702200-19708600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:19702200-19711200	Weak transcription	HSMMtube	muscle
49	chr8:19702600-19707400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:19702600-19708400	Weak transcription	H1 Cell Line	embryonic stem cell

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