Variant report

Variant	rs280922
Chromosome Location	chr13:30149431-30149432
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30147733..30149517-chr13:30152740..30154897,2	MCF-7	breast:
2	chr13:30141734..30150637-chr13:30164575..30171336,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1018679	0.89[CHB][hapmap]
rs11839516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428026	0.81[CHB][hapmap]
rs166828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150688	0.80[CHB][hapmap]
rs2150690	0.81[CHB][hapmap]
rs2236499	0.90[CHB][hapmap]
rs2277451	0.81[CHB][hapmap]
rs2802249	0.82[CHB][hapmap]
rs280923	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs280924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs280930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280931	0.94[ASN][1000 genomes]
rs280933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs280936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2989594	0.81[CHB][hapmap]
rs3011605	0.81[CHB][hapmap]
rs3783248	0.80[CHB][hapmap]
rs3783257	0.81[CHB][hapmap]
rs3783259	0.82[CHB][hapmap]
rs3783260	0.81[CHB][hapmap]
rs3783262	0.82[CHB][hapmap]
rs3783263	0.82[CHB][hapmap]
rs3803266	0.86[CHB][hapmap]
rs3825536	0.81[CHB][hapmap]
rs476506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs485359	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532568	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537151	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs579451	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs617892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490409	0.81[CHB][hapmap]
rs7338758	0.85[CHB][hapmap]
rs7991883	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7997827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs819386	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs914362	0.81[CHB][hapmap]
rs9550482	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9551696	0.86[CHB][hapmap]
rs9551699	0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs9551700	0.86[CHB][hapmap]
rs9551701	0.91[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	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30126000-30161400	Weak transcription	Primary B cells from cord blood	blood
2	chr13:30127600-30151400	Weak transcription	Aorta	Aorta
3	chr13:30127600-30156400	Weak transcription	Lung	lung
4	chr13:30128000-30163600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr13:30128600-30161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:30128800-30155800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:30137200-30151000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:30138600-30154000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:30138800-30155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr13:30138800-30159800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:30143200-30151200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:30144200-30151200	Weak transcription	Fetal Stomach	stomach
14	chr13:30144400-30152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:30144400-30155600	Weak transcription	HMEC	breast
16	chr13:30144600-30154000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:30144800-30150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30144800-30154000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:30145000-30150800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:30145000-30151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:30146000-30154000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:30146400-30154000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:30146400-30155400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:30146800-30154000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:30147000-30152400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:30147000-30154200	Weak transcription	Hela-S3	cervix
27	chr13:30147200-30163200	Weak transcription	Fetal Intestine Small	intestine
28	chr13:30147600-30150600	Enhancers	HepG2	liver
29	chr13:30147600-30151200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:30147600-30155400	Weak transcription	Fetal Brain Male	brain
31	chr13:30147800-30150600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:30147800-30150800	Weak transcription	Left Ventricle	heart
33	chr13:30147800-30151000	Weak transcription	Adipose Nuclei	Adipose
34	chr13:30147800-30151000	Weak transcription	Spleen	Spleen
35	chr13:30147800-30151200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:30147800-30151200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:30147800-30151200	Weak transcription	Right Ventricle	heart
38	chr13:30147800-30151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:30147800-30151400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:30147800-30151400	Weak transcription	Psoas Muscle	Psoas
41	chr13:30147800-30151400	Weak transcription	Right Atrium	heart
42	chr13:30147800-30151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr13:30147800-30151600	Weak transcription	Osteobl	bone
44	chr13:30147800-30152600	Weak transcription	NH-A	brain
45	chr13:30147800-30152800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:30147800-30153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:30147800-30155200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:30147800-30155600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr13:30147800-30163600	Weak transcription	Thymus	Thymus
50	chr13:30148200-30150000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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