Variant report

Variant	rs6770424
Chromosome Location	chr3:150174304-150174305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150168904..150171899-chr3:150172868..150174513,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10513374	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs10935800	0.80[CHD][hapmap];0.91[JPT][hapmap]
rs11706245	0.81[ASN][1000 genomes]
rs12639090	0.91[JPT][hapmap]
rs13080841	0.83[ASN][1000 genomes]
rs13080858	0.83[ASN][1000 genomes]
rs13082720	0.96[ASN][1000 genomes]
rs1450335	0.96[ASN][1000 genomes]
rs1450336	0.96[ASN][1000 genomes]
rs1450344	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584586	0.82[JPT][hapmap]
rs16862627	0.82[JPT][hapmap]
rs16862644	0.82[JPT][hapmap]
rs16862651	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16862676	0.82[JPT][hapmap]
rs1868672	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868673	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167177	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28514580	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2868425	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs4423794	0.81[CHD][hapmap];0.91[JPT][hapmap]
rs4681205	0.86[JPT][hapmap]
rs4681615	0.96[ASN][1000 genomes]
rs4681618	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs4681619	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6762432	0.83[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6792759	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6810143	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7427177	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7626725	0.96[ASN][1000 genomes]
rs7651353	0.91[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7651989	0.83[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9289810	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9784281	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9784335	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap]
rs9813752	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9826729	0.91[JPT][hapmap]
rs9846873	0.95[ASN][1000 genomes]
rs9882777	0.82[CHB][hapmap];0.91[JPT][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6770424	TSC22D2	cis	multi-tissue	Pritchard

Chromatin state (count:118 , 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	chr3:150140000-150176200	Weak transcription	Fetal Stomach	stomach
7	chr3:150141400-150175200	Weak transcription	GM12878-XiMat	blood
8	chr3:150144200-150179000	Weak transcription	Aorta	Aorta
9	chr3:150149600-150176000	Weak transcription	Fetal Brain Female	brain
10	chr3:150153000-150175600	Weak transcription	Right Ventricle	heart
11	chr3:150153600-150178200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:150153800-150176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:150154000-150175800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:150154200-150176000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:150158600-150178200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:150159800-150175600	Weak transcription	Thymus	Thymus
17	chr3:150159800-150176200	Weak transcription	Spleen	Spleen
18	chr3:150160200-150175800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:150160400-150174800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:150160600-150176200	Weak transcription	Esophagus	oesophagus
21	chr3:150160600-150178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:150160800-150175200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:150160800-150175200	Weak transcription	Fetal Thymus	thymus
24	chr3:150160800-150175800	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:150160800-150176200	Weak transcription	Fetal Kidney	kidney
26	chr3:150160800-150176200	Weak transcription	Gastric	stomach
27	chr3:150161200-150174800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:150162200-150175000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:150162400-150174600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:150162400-150174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:150165400-150176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:150165600-150176800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:150165600-150178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:150165600-150187200	Weak transcription	Small Intestine	intestine
35	chr3:150165800-150175000	Weak transcription	Primary B cells from cord blood	blood
36	chr3:150165800-150176200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:150166000-150186200	Weak transcription	Brain Germinal Matrix	brain
38	chr3:150166200-150174600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:150166200-150174800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:150166200-150175200	Weak transcription	Left Ventricle	heart
41	chr3:150166400-150175200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:150166400-150175200	Weak transcription	Pancreas	Pancrea
43	chr3:150166400-150175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:150166400-150185600	Weak transcription	Lung	lung
45	chr3:150167200-150174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:150167200-150175200	Weak transcription	Primary T cells from cord blood	blood
47	chr3:150167200-150176200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:150167400-150175000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:150167400-150176400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:150168200-150174800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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