Variant report

Variant	rs4604455
Chromosome Location	chr8:126518027-126518028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126517122..126519664-chr8:126522287..126525132,2	MCF-7	breast:
2	chr8:126444409..126444996-chr8:126517806..126518409,2	MCF-7	breast:
3	chr8:126506743..126511658-chr8:126513008..126519867,6	MCF-7	breast:
4	chr8:126501580..126503406-chr8:126515565..126518196,2	K562	blood:
5	chr8:126516241..126518607-chr8:126521578..126523469,2	MCF-7	breast:
6	chr8:126515469..126518186-chr8:126519785..126522159,2	MCF-7	breast:
7	chr11:62609117..62609696-chr8:126517971..126518848,2	NB4	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10956251	0.87[ASN][1000 genomes]
rs12114418	0.87[ASN][1000 genomes]
rs12679189	0.82[CHB][hapmap]
rs4512391	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523863	0.90[ASN][1000 genomes]
rs6470361	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7012891	0.88[ASN][1000 genomes]
rs7832357	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126509400-126518200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:126510400-126521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:126511400-126521400	Weak transcription	Hela-S3	cervix
4	chr8:126511400-126522000	Weak transcription	Fetal Lung	lung
5	chr8:126511800-126524000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:126512800-126525000	Weak transcription	Esophagus	oesophagus
7	chr8:126514600-126520200	Enhancers	HepG2	liver
8	chr8:126514600-126522000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:126514800-126524200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:126515600-126518600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:126515800-126518200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:126516400-126525000	Weak transcription	Psoas Muscle	Psoas
13	chr8:126517000-126518200	Weak transcription	Lung	lung
14	chr8:126517200-126529000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:126517400-126518600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:126517600-126518200	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:126517600-126518800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr8:126517600-126518800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:126517600-126518800	Enhancers	Fetal Muscle Leg	muscle
20	chr8:126517600-126519000	Enhancers	Left Ventricle	heart
21	chr8:126517600-126519400	Enhancers	Adipose Nuclei	Adipose
22	chr8:126517600-126528000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:126517800-126518400	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:126517800-126518400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:126517800-126518400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr8:126517800-126518400	Flanking Active TSS	GM12878-XiMat	blood
27	chr8:126517800-126518400	Enhancers	K562	blood
28	chr8:126517800-126518600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr8:126517800-126518600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:126517800-126518600	Enhancers	Right Ventricle	heart
31	chr8:126517800-126518800	Enhancers	Liver	Liver
32	chr8:126517800-126519000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr8:126517800-126519000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:126517800-126519400	Enhancers	Spleen	Spleen
35	chr8:126517800-126519400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:126517800-126520600	Enhancers	Fetal Thymus	thymus
37	chr8:126517800-126520800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:126517800-126522400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:126517800-126522600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:126517800-126522800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:126517800-126523600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:126518000-126518200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:126518000-126518600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:126518000-126519800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:126518000-126520600	Enhancers	Placenta	Placenta
46	chr8:126518000-126522200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:126518000-126522400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr8:126518000-126523400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr8:126518000-126534400	Weak transcription	Right Atrium	heart

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