Variant report

Variant	rs13066114
Chromosome Location	chr3:150139158-150139159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:150138871-150140390	K562	blood:	n/a	n/a
2	POLR2A	chr3:150138843-150141888	K562	blood:	n/a	n/a
3	POLR2A	chr3:150138944-150140674	K562	blood:	n/a	n/a
4	PML	chr3:150138845-150139509	K562	blood:	n/a	n/a
5	POLR2A	chr3:150138959-150140478	PANC-1	pancreas:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150069354..150071099-chr3:150138722..150140607,2	K562	blood:
2	chr3:150086902..150089689-chr3:150137707..150139758,2	MCF-7	breast:
3	chr3:150092338..150094835-chr3:150138440..150140402,2	MCF-7	breast:
4	chr3:149956495..149958158-chr3:150137988..150139629,2	MCF-7	breast:
5	chr3:150138598..150140801-chr3:150147562..150149502,2	MCF-7	breast:
6	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:
7	chr3:150134899..150136679-chr3:150137562..150139549,2	MCF-7	breast:
8	chr3:150138486..150140659-chr3:150145400..150147517,2	MCF-7	breast:
9	chr3:150091318..150093525-chr3:150137664..150139823,2	K562	blood:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513368	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513369	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513370	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10513375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11713072	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714034	0.93[EUR][1000 genomes]
rs11714123	0.93[EUR][1000 genomes]
rs11925759	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11928577	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11928948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13067910	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13073230	0.96[ASN][1000 genomes]
rs13076419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13089766	0.85[EUR][1000 genomes]
rs13317818	0.93[ASN][1000 genomes]
rs1376027	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28587291	0.93[ASN][1000 genomes]
rs2868430	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106738	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34503712	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34647320	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34983941	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35019980	0.85[EUR][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs35598887	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3749400	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811719	0.93[ASN][1000 genomes]
rs61734437	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66816665	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67073112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67100311	0.85[EUR][1000 genomes]
rs6791546	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799106	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799981	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165716	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73167540	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7614772	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7618493	0.93[ASN][1000 genomes]
rs7620193	0.93[ASN][1000 genomes]
rs7621019	0.93[ASN][1000 genomes]
rs7623100	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827736	0.86[ASN][1000 genomes]
rs9844735	0.93[ASN][1000 genomes]
rs9875752	0.93[ASN][1000 genomes]
rs9879140	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1799287	chr3:150125721-150147118	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150131000-150152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:150131000-150166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:150132200-150140600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:150132400-150139200	Weak transcription	Fetal Stomach	stomach
5	chr3:150132400-150146000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:150132400-150151400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:150132400-150151600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:150132400-150159200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:150132400-150160400	Weak transcription	Pancreas	Pancrea
10	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
12	chr3:150132600-150145200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:150132800-150145800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:150132800-150145800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:150132800-150151000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:150133000-150139800	Weak transcription	Fetal Kidney	kidney
17	chr3:150133600-150139600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:150133600-150139800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:150133600-150151000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:150133600-150159200	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:150133600-150159200	Weak transcription	Left Ventricle	heart
22	chr3:150133800-150159200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:150134000-150143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:150134000-150143800	Weak transcription	Aorta	Aorta
25	chr3:150134000-150146000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:150134000-150147000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:150134000-150159200	Weak transcription	Thymus	Thymus
28	chr3:150134200-150139200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:150134200-150140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:150134400-150139200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:150134600-150146000	Weak transcription	Stomach Mucosa	stomach
32	chr3:150134600-150174800	Weak transcription	Dnd41	blood
33	chr3:150134800-150139800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:150135000-150139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:150135600-150145600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:150136000-150140800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:150136000-150144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:150136000-150145800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:150136000-150160800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:150136200-150139600	Weak transcription	Ovary	ovary
42	chr3:150136200-150139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:150136200-150140200	Enhancers	NHEK	skin
44	chr3:150136200-150140600	Weak transcription	Fetal Brain Female	brain
45	chr3:150136200-150142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:150136200-150146000	Weak transcription	Psoas Muscle	Psoas
47	chr3:150136200-150160000	Weak transcription	Fetal Brain Male	brain
48	chr3:150136400-150140200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:150136400-150142000	Enhancers	Fetal Lung	lung
50	chr3:150136400-150142400	Weak transcription	Fetal Thymus	thymus

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