Variant report

Variant	rs2256122
Chromosome Location	chr13:30404769-30404770
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30403000..30404793-chr13:30686519..30690620,3	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1099277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	0.84[EUR][1000 genomes]
rs12861019	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864739	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868469	0.84[EUR][1000 genomes]
rs12869833	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571255	0.87[ASN][1000 genomes]
rs1631987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747058	1.00[ASN][1000 genomes]
rs1747059	1.00[ASN][1000 genomes]
rs1747060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.82[ASN][1000 genomes]
rs2031280	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182775	0.82[ASN][1000 genomes]
rs2182776	0.82[ASN][1000 genomes]
rs2182777	0.82[ASN][1000 genomes]
rs2476650	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278032	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278039	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794296	1.00[ASN][1000 genomes]
rs2794297	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[ASN][1000 genomes]
rs2794300	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892464	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3118078	1.00[ASN][1000 genomes]
rs3118079	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114731	0.80[EUR][1000 genomes]
rs34129219	0.84[EUR][1000 genomes]
rs34232669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317115	0.84[EUR][1000 genomes]
rs34333613	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34726132	0.80[EUR][1000 genomes]
rs34837672	0.84[EUR][1000 genomes]
rs34943308	0.80[EUR][1000 genomes]
rs35177317	0.84[EUR][1000 genomes]
rs35452290	0.80[EUR][1000 genomes]
rs35520191	0.84[EUR][1000 genomes]
rs35693706	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35727212	0.84[EUR][1000 genomes]
rs35735441	0.84[EUR][1000 genomes]
rs35828457	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849390	0.80[EUR][1000 genomes]
rs35933528	0.84[EUR][1000 genomes]
rs36082926	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[ASN][1000 genomes]
rs4142339	1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.87[ASN][1000 genomes]
rs4385989	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399408	1.00[ASN][1000 genomes]
rs4611301	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.82[ASN][1000 genomes]
rs4769024	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[ASN][1000 genomes]
rs57634252	0.82[AMR][1000 genomes];0.98[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	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434758	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434759	0.84[EUR][1000 genomes]
rs71434760	0.84[EUR][1000 genomes]
rs71434762	0.84[EUR][1000 genomes]
rs71434763	0.84[EUR][1000 genomes]
rs71434764	0.80[EUR][1000 genomes]
rs71434765	0.80[EUR][1000 genomes]
rs71434766	0.80[EUR][1000 genomes]
rs719199	0.95[AMR][1000 genomes];0.98[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	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.84[EUR][1000 genomes]
rs8001320	1.00[ASN][1000 genomes]
rs8001330	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912394	0.87[ASN][1000 genomes]
rs9314977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943561	0.82[ASN][1000 genomes]
rs9508549	0.82[ASN][1000 genomes]
rs9508551	1.00[ASN][1000 genomes]
rs9550492	1.00[ASN][1000 genomes]
rs9551734	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30385800-30406800	Weak transcription	Pancreas	Pancrea
3	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
4	chr13:30386000-30406200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:30391200-30410600	Weak transcription	Ovary	ovary
6	chr13:30392000-30415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:30393800-30406800	Weak transcription	Primary T cells from cord blood	blood
8	chr13:30393800-30406800	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:30394000-30410600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr13:30394200-30413400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:30394400-30407600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:30394400-30410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:30397000-30405800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:30398600-30407000	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:30402000-30409400	Weak transcription	Primary B cells from cord blood	blood
16	chr13:30402400-30404800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:30402800-30405400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr13:30403000-30404800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:30403000-30406800	Weak transcription	Psoas Muscle	Psoas
20	chr13:30403200-30407000	Weak transcription	Gastric	stomach
21	chr13:30403400-30406800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:30403600-30406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30404000-30405400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:30404000-30405600	Enhancers	GM12878-XiMat	blood
25	chr13:30404200-30404800	Enhancers	HSMM	muscle
26	chr13:30404200-30405000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:30404200-30405200	Enhancers	Adipose Nuclei	Adipose
28	chr13:30404200-30405200	Enhancers	Brain Anterior Caudate	brain
29	chr13:30404200-30405400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:30404400-30405000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:30404400-30405000	Enhancers	Osteobl	bone
32	chr13:30404400-30405200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:30404400-30405200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr13:30404400-30405200	Enhancers	Stomach Mucosa	stomach
35	chr13:30404400-30405200	Enhancers	NHDF-Ad	bronchial
36	chr13:30404400-30408400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:30404600-30404800	Enhancers	Brain Cingulate Gyrus	brain
39	chr13:30404600-30405000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:30404600-30406000	Enhancers	Hela-S3	cervix
41	chr13:30404600-30415800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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