Variant report

Variant	rs11991144
Chromosome Location	chr8:124394312-124394313
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	chr8:124393890-124394376	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr8:124393969-124394461	HepG2	liver:	n/a	n/a
3	TCF7L2	chr8:124393529-124394470	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124393316..124396015-chr8:124397874..124399750,2	MCF-7	breast:

Variant related genes	Relation type
ATAD2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089968	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10103175	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11991436	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11992098	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11992167	1.00[AMR][1000 genomes]
rs11996182	1.00[MEX][hapmap]
rs11997908	0.88[AFR][1000 genomes]
rs16898127	1.00[MEX][hapmap]
rs16898144	1.00[AMR][1000 genomes]
rs16898172	0.83[AMR][1000 genomes]
rs16898257	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1869248	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs28461952	0.83[AFR][1000 genomes]
rs34654114	0.85[AMR][1000 genomes]
rs3857955	0.80[AFR][1000 genomes]
rs5001348	1.00[MEX][hapmap]
rs6987701	1.00[MEX][hapmap]
rs7003464	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs7007690	0.88[AFR][1000 genomes]
rs73703770	1.00[AMR][1000 genomes]
rs73703771	1.00[AMR][1000 genomes]
rs7814158	0.85[AMR][1000 genomes]
rs7814371	0.85[AMR][1000 genomes]
rs7817491	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825266	0.83[AMR][1000 genomes]
rs900629	1.00[YRI][hapmap];0.85[AFR][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	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124330400-124394600	Strong transcription	Fetal Thymus	thymus
2	chr8:124335200-124398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124335600-124398600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:124341600-124406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:124345600-124396400	Weak transcription	Psoas Muscle	Psoas
6	chr8:124348600-124398400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:124349400-124398200	Weak transcription	Aorta	Aorta
8	chr8:124350200-124396400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:124373400-124399600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:124373400-124399600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:124373600-124395000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:124374000-124406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:124374400-124407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:124379000-124407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:124379200-124397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:124380000-124396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:124380000-124405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:124382400-124396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:124384600-124396400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:124384600-124396600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:124384600-124396600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:124384600-124398600	Weak transcription	NH-A	brain
23	chr8:124384800-124396400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:124384800-124396600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:124384800-124398600	Weak transcription	Ovary	ovary
26	chr8:124385000-124396600	Weak transcription	NHDF-Ad	bronchial
27	chr8:124385000-124398200	Weak transcription	Fetal Kidney	kidney
28	chr8:124385000-124398400	Weak transcription	Primary B cells from cord blood	blood
29	chr8:124385200-124396600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:124385200-124398200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:124385200-124398400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:124385200-124402600	Weak transcription	HMEC	breast
33	chr8:124385200-124407400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:124385600-124396600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:124385600-124398200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:124386200-124398200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:124386600-124396600	Weak transcription	Left Ventricle	heart
38	chr8:124387200-124396800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:124387200-124399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:124387600-124398400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:124387800-124396000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:124387800-124396400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:124387800-124398200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:124387800-124398400	Weak transcription	Brain Anterior Caudate	brain
45	chr8:124387800-124398400	Weak transcription	HSMM	muscle
46	chr8:124387800-124406600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:124388000-124396600	Weak transcription	Fetal Lung	lung
48	chr8:124389000-124396400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:124389000-124407200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:124389200-124398200	Weak transcription	Thymus	Thymus

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