Variant report

Variant	rs12545084
Chromosome Location	chr8:124397050-124397051
allele	C/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	chr8:124396763-124397129	HepG2	liver:	n/a	n/a
2	STAT3	chr8:124396915-124397088	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:124396903-124397088	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124388640..124392535-chr8:124394985..124398200,4	K562	blood:
2	chr8:124395442..124398416-chr8:124399286..124401620,3	K562	blood:
3	chr8:124392381..124394733-chr8:124395391..124397248,2	MCF-7	breast:

Variant related genes	Relation type
ATAD2	TF binding region
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099717	1.00[MEX][hapmap]
rs16898204	1.00[MEX][hapmap]

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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124335200-124398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:124335600-124398600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:124341600-124406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:124348600-124398400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:124349400-124398200	Weak transcription	Aorta	Aorta
6	chr8:124373400-124399600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:124373400-124399600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:124374000-124406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:124374400-124407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:124379000-124407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:124379200-124397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:124380000-124405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:124384600-124398600	Weak transcription	NH-A	brain
14	chr8:124384800-124398600	Weak transcription	Ovary	ovary
15	chr8:124385000-124398200	Weak transcription	Fetal Kidney	kidney
16	chr8:124385000-124398400	Weak transcription	Primary B cells from cord blood	blood
17	chr8:124385200-124398200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:124385200-124398400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:124385200-124402600	Weak transcription	HMEC	breast
20	chr8:124385200-124407400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:124385600-124398200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:124386200-124398200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124387200-124399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:124387600-124398400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:124387800-124398200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:124387800-124398400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:124387800-124398400	Weak transcription	HSMM	muscle
28	chr8:124387800-124406600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:124389000-124407200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:124389200-124398200	Weak transcription	Thymus	Thymus
31	chr8:124389200-124398400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:124390000-124404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:124390200-124407200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:124390400-124398600	Weak transcription	HUVEC	blood vessel
35	chr8:124391400-124398200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:124391800-124398600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:124391800-124401800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:124391800-124402400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:124391800-124402600	Weak transcription	NHEK	skin
40	chr8:124391800-124404000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:124392000-124398400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:124392000-124404000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:124392200-124400000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:124392200-124402800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:124392400-124398200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:124392800-124398200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:124393000-124401600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:124393000-124401800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:124393200-124403800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:124393800-124400400	Weak transcription	Fetal Stomach	stomach

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