Variant report

Variant	rs8000887
Chromosome Location	chr13:30352164-30352165
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	chr13:30351544..30354473-chr13:30379048..30380772,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1099277	0.81[EUR][1000 genomes]
rs12861019	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12864739	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12865525	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12867537	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12868298	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12869833	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12872768	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12874615	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12875231	0.82[EUR][1000 genomes]
rs12877107	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1327643	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1631987	0.86[EUR][1000 genomes]
rs166760	0.83[EUR][1000 genomes]
rs17073897	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17073905	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17073919	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1747057	0.86[EUR][1000 genomes]
rs1747060	0.86[EUR][1000 genomes]
rs1747061	0.86[EUR][1000 genomes]
rs1747062	0.86[EUR][1000 genomes]
rs1747063	0.86[EUR][1000 genomes]
rs17502757	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1772726	0.86[EUR][1000 genomes]
rs2031280	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2256122	0.84[EUR][1000 genomes]
rs2476650	0.84[EUR][1000 genomes]
rs2476651	0.83[EUR][1000 genomes]
rs2761929	0.86[EUR][1000 genomes]
rs2761930	0.86[EUR][1000 genomes]
rs2761931	0.83[EUR][1000 genomes]
rs2761932	0.86[EUR][1000 genomes]
rs2761934	0.83[EUR][1000 genomes]
rs2761936	0.86[EUR][1000 genomes]
rs278031	0.83[EUR][1000 genomes]
rs278032	0.83[EUR][1000 genomes]
rs278033	0.83[EUR][1000 genomes]
rs278035	0.83[EUR][1000 genomes]
rs278036	0.83[EUR][1000 genomes]
rs278039	0.83[EUR][1000 genomes]
rs2794295	0.86[EUR][1000 genomes]
rs2794297	0.83[EUR][1000 genomes]
rs2794300	0.86[EUR][1000 genomes]
rs3118079	0.86[EUR][1000 genomes]
rs3118080	0.86[EUR][1000 genomes]
rs34232669	0.86[EUR][1000 genomes]
rs34333613	0.84[EUR][1000 genomes]
rs35042630	0.81[EUR][1000 genomes]
rs35158864	0.81[EUR][1000 genomes]
rs35693706	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35828457	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35889915	0.81[EUR][1000 genomes]
rs36082926	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4335642	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4379924	0.81[EUR][1000 genomes]
rs4385989	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4611301	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4769024	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57634252	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71427282	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71434756	0.84[EUR][1000 genomes]
rs71434758	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs719199	0.86[EUR][1000 genomes]
rs7985986	0.86[EUR][1000 genomes]
rs7992684	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8000607	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8001330	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs818763	0.86[EUR][1000 genomes]
rs818764	0.86[EUR][1000 genomes]
rs9314977	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9551734	0.81[EUR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:30333200-30353800	Weak transcription	Gastric	stomach
4	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
5	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
6	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
9	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
11	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30337800-30359800	Weak transcription	HMEC	breast
13	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
23	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr13:30341800-30353800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr13:30341800-30354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:30341800-30354400	Weak transcription	Adipose Nuclei	Adipose
29	chr13:30341800-30359800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:30341800-30360200	Weak transcription	Left Ventricle	heart
31	chr13:30341800-30360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:30341800-30363600	Weak transcription	HSMM	muscle
33	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:30342000-30356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:30342000-30357000	Weak transcription	NHDF-Ad	bronchial
36	chr13:30342000-30359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:30343400-30356600	Weak transcription	Liver	Liver
38	chr13:30343800-30360200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:30344000-30353000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:30344000-30357000	Weak transcription	Osteobl	bone
41	chr13:30344400-30359600	Weak transcription	Primary T cells from cord blood	blood
42	chr13:30344400-30360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:30345800-30360200	Weak transcription	Small Intestine	intestine
44	chr13:30346600-30359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:30347600-30361800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:30347800-30361400	Weak transcription	A549	lung
47	chr13:30349200-30360200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr13:30349800-30364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:30350000-30360000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:30350200-30357600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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