Variant report

Variant	rs278032
Chromosome Location	chr13:30418937-30418938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30417737..30420781-chr13:30496514..30501244,5	MCF-7	breast:
2	chr13:30418151..30421595-chr13:30683662..30686422,3	MCF-7	breast:
3	chr13:30418877..30421858-chr13:30687750..30689569,3	MCF-7	breast:
4	chr13:30408592..30412430-chr13:30415846..30421304,5	MCF-7	breast:
5	chr13:30418186..30420449-chr13:30497353..30498942,2	MCF-7	breast:
6	chr13:30415961..30419397-chr13:30686617..30690558,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224405	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1099277	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12859613	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12861019	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864739	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865525	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868469	0.85[EUR][1000 genomes]
rs12869833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872768	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874615	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12877107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073919	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747061	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1747063	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1772726	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009535	0.82[ASN][1000 genomes]
rs2031280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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]
rs2256122	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476650	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2476651	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761929	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761930	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761931	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761932	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761934	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761936	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278039	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]
rs278043	1.00[ASN][1000 genomes]
rs278047	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2794300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892464	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3118078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3118079	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3118080	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114731	0.82[EUR][1000 genomes]
rs34129219	0.85[EUR][1000 genomes]
rs34232669	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317115	0.85[EUR][1000 genomes]
rs34333613	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34726132	0.82[EUR][1000 genomes]
rs34837672	0.85[EUR][1000 genomes]
rs34943308	0.82[EUR][1000 genomes]
rs35177317	0.85[EUR][1000 genomes]
rs35452290	0.82[EUR][1000 genomes]
rs35520191	0.85[EUR][1000 genomes]
rs35693706	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35727212	0.85[EUR][1000 genomes]
rs35735441	0.85[EUR][1000 genomes]
rs35828457	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849390	0.82[EUR][1000 genomes]
rs35933528	0.85[EUR][1000 genomes]
rs36082926	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4083609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4142339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4142340	1.00[ASN][1000 genomes]
rs4335642	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4379924	0.87[ASN][1000 genomes]
rs4385989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4611301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769021	0.82[ASN][1000 genomes]
rs4769023	0.82[ASN][1000 genomes]
rs4769024	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57634252	0.97[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	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427283	1.00[ASN][1000 genomes]
rs71434758	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434759	0.85[EUR][1000 genomes]
rs71434760	0.85[EUR][1000 genomes]
rs71434762	0.85[EUR][1000 genomes]
rs71434763	0.85[EUR][1000 genomes]
rs71434764	0.82[EUR][1000 genomes]
rs71434765	0.82[EUR][1000 genomes]
rs71434766	0.82[EUR][1000 genomes]
rs719199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[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];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000607	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000887	0.83[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];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818763	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[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[JPT][hapmap];0.87[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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:30405400-30419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:30406000-30419600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:30407400-30419200	Weak transcription	Fetal Intestine Small	intestine
6	chr13:30407400-30419400	Weak transcription	Brain Angular Gyrus	brain
7	chr13:30407400-30419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:30407400-30419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:30407400-30420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:30408200-30420800	Weak transcription	Right Atrium	heart
11	chr13:30409800-30421600	Weak transcription	Left Ventricle	heart
12	chr13:30410000-30420000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr13:30411000-30420800	Weak transcription	Ovary	ovary
14	chr13:30412000-30421000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:30413200-30420600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:30413800-30420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr13:30414800-30420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr13:30414800-30420800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:30415400-30420800	Weak transcription	Fetal Kidney	kidney
20	chr13:30415800-30419600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:30415800-30420000	Weak transcription	Fetal Brain Male	brain
22	chr13:30415800-30421000	Weak transcription	HMEC	breast
23	chr13:30416000-30419200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr13:30416200-30419200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:30416200-30419600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:30416200-30419800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:30416200-30420000	Weak transcription	Fetal Heart	heart
28	chr13:30416200-30420800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:30416200-30420800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:30416200-30420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:30416200-30420800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:30416200-30420800	Weak transcription	Thymus	Thymus
33	chr13:30416200-30421000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr13:30416200-30421000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr13:30416200-30421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:30416400-30420400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr13:30416600-30420800	Weak transcription	Psoas Muscle	Psoas
38	chr13:30416600-30421600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:30416800-30419200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr13:30416800-30419600	Weak transcription	HepG2	liver
41	chr13:30416800-30420800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr13:30417000-30420400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:30417000-30420800	Weak transcription	Stomach Mucosa	stomach
44	chr13:30417200-30419200	Weak transcription	Primary T cells from cord blood	blood
45	chr13:30417200-30419200	Weak transcription	Colon Smooth Muscle	Colon
46	chr13:30417200-30420400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:30417400-30419000	Weak transcription	Liver	Liver
48	chr13:30417400-30419600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:30417600-30420600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr13:30417800-30419200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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