Variant report

Variant	rs1450343
Chromosome Location	chr3:150171254-150171255
allele	C/T
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:5)
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	EP300	chr3:150170989-150171486	K562	blood:	n/a	n/a
2	POLR2A	chr3:150170228-150173416	K562	blood:	n/a	n/a
3	FOXA1	chr3:150171173-150171576	HepG2	liver:	n/a	n/a
4	FOXA2	chr3:150171226-150171487	HepG2	liver:	n/a	n/a
5	FOXA1	chr3:150171226-150171499	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150168904..150171899-chr3:150172868..150174513,3	K562	blood:
2	chr3:150168054..150172807-chr3:150173642..150176262,4	MCF-7	breast:
3	chr3:150170167..150172152-chr3:150238313..150240772,2	MCF-7	breast:
4	chr3:150170359..150173092-chr3:150176386..150178646,2	MCF-7	breast:
5	chr3:150128717..150130834-chr3:150168814..150172247,3	MCF-7	breast:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10154963	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10804747	0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13066779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1463229	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1466131	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1562787	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2903834	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4256160	0.90[CEU][hapmap]
rs4323025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6414375	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6763422	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770312	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6778948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785158	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6803715	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7430585	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7642773	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9843097	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9844184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9855441	0.80[ASN][1000 genomes]
rs9881867	0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150132400-150175000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:150132400-150175000	Weak transcription	Placenta	Placenta
3	chr3:150134600-150174800	Weak transcription	Dnd41	blood
4	chr3:150135000-150175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr3:150137200-150176200	Weak transcription	HepG2	liver
6	chr3:150140000-150171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
8	chr3:150141400-150175200	Weak transcription	GM12878-XiMat	blood
9	chr3:150144200-150179000	Weak transcription	Aorta	Aorta
10	chr3:150149600-150176000	Weak transcription	Fetal Brain Female	brain
11	chr3:150151400-150171600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:150153000-150175600	Weak transcription	Right Ventricle	heart
13	chr3:150153600-150178200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:150153800-150176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:150154000-150175800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:150154200-150176000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:150157800-150173000	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:150158600-150178200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:150159800-150171600	Weak transcription	Brain Substantia Nigra	brain
20	chr3:150159800-150175600	Weak transcription	Thymus	Thymus
21	chr3:150159800-150176200	Weak transcription	Spleen	Spleen
22	chr3:150160200-150175800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:150160400-150174800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:150160600-150176200	Weak transcription	Esophagus	oesophagus
25	chr3:150160600-150178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:150160800-150175200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:150160800-150175200	Weak transcription	Fetal Thymus	thymus
28	chr3:150160800-150175800	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:150160800-150176200	Weak transcription	Fetal Kidney	kidney
30	chr3:150160800-150176200	Weak transcription	Gastric	stomach
31	chr3:150161200-150174800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:150162200-150175000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:150162400-150174600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:150162400-150174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:150165400-150176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:150165600-150176800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:150165600-150178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:150165600-150187200	Weak transcription	Small Intestine	intestine
39	chr3:150165800-150175000	Weak transcription	Primary B cells from cord blood	blood
40	chr3:150165800-150176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:150166000-150186200	Weak transcription	Brain Germinal Matrix	brain
42	chr3:150166200-150174600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:150166200-150174800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:150166200-150175200	Weak transcription	Left Ventricle	heart
45	chr3:150166400-150171800	Weak transcription	Psoas Muscle	Psoas
46	chr3:150166400-150175200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:150166400-150175200	Weak transcription	Pancreas	Pancrea
48	chr3:150166400-150175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:150166400-150185600	Weak transcription	Lung	lung
50	chr3:150167200-150174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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