Variant report

Variant	rs4385989
Chromosome Location	chr13:30341030-30341031
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	chr13:30339629..30341793-chr13:30342795..30344909,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1099277	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	1.00[CEU][hapmap]
rs12861019	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864739	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12869833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571255	0.87[ASN][1000 genomes]
rs1631987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747058	1.00[ASN][1000 genomes]
rs1747059	1.00[ASN][1000 genomes]
rs1747060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.84[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2031280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182775	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2182776	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2182777	0.82[ASN][1000 genomes]
rs2256122	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476650	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278039	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794296	1.00[ASN][1000 genomes]
rs2794297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs2794300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs3118079	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34232669	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34333613	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35042630	0.85[EUR][1000 genomes]
rs35158864	0.85[EUR][1000 genomes]
rs35693706	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35828457	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35889915	0.85[EUR][1000 genomes]
rs36082926	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4142339	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4399408	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs4611301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769024	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs57634252	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58961964	1.00[ASN][1000 genomes]
rs6490427	1.00[ASN][1000 genomes]
rs6490428	1.00[ASN][1000 genomes]
rs6490431	1.00[ASN][1000 genomes]
rs71427282	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434756	0.88[EUR][1000 genomes]
rs71434758	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322158	0.87[ASN][1000 genomes]
rs74044752	1.00[ASN][1000 genomes]
rs7983788	1.00[ASN][1000 genomes]
rs7985986	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.85[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8001320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8001330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912394	0.87[ASN][1000 genomes]
rs9314977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943561	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508549	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9508551	1.00[ASN][1000 genomes]
rs9550492	1.00[ASN][1000 genomes]
rs9551734	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs968612	1.00[ASN][1000 genomes]
rs9788356	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
2	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
4	chr13:30328800-30351800	Weak transcription	NH-A	brain
5	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:30333200-30353800	Weak transcription	Gastric	stomach
9	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
10	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
11	chr13:30333400-30345800	Weak transcription	HepG2	liver
12	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
15	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
16	chr13:30336000-30343000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
19	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:30337800-30342800	Weak transcription	Esophagus	oesophagus
21	chr13:30337800-30359800	Weak transcription	HMEC	breast
22	chr13:30338200-30341400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:30338200-30341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:30338200-30343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr13:30338200-30344000	Weak transcription	Ovary	ovary
26	chr13:30338400-30341200	Weak transcription	Fetal Muscle Leg	muscle
27	chr13:30338400-30341800	Weak transcription	NHEK	skin
28	chr13:30338400-30345000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr13:30338800-30341800	Strong transcription	HSMM	muscle
34	chr13:30338800-30347400	Weak transcription	Stomach Mucosa	stomach
35	chr13:30339000-30341600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:30339000-30342200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr13:30339400-30350800	Weak transcription	Hela-S3	cervix
40	chr13:30339600-30341800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr13:30339600-30342000	Strong transcription	NHDF-Ad	bronchial
42	chr13:30339600-30349600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:30339800-30341800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:30339800-30342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr13:30339800-30346400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr13:30340000-30341800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr13:30340000-30342200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr13:30340000-30344200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr13:30340200-30341200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:30340200-30341800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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