Variant report

Variant	rs71434765
Chromosome Location	chr13:30427170-30427171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
2	chr13:30425761..30427408-chr13:30430523..30432297,2	MCF-7	breast:
3	chr13:30422516..30424271-chr13:30426326..30429271,2	K562	blood:
4	chr13:30426623..30428977-chr5:41516174..41518138,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224405	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12859613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12861019	0.82[EUR][1000 genomes]
rs12864739	0.82[EUR][1000 genomes]
rs12865525	0.82[EUR][1000 genomes]
rs12867537	0.82[EUR][1000 genomes]
rs12868298	0.82[EUR][1000 genomes]
rs12868469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12869325	1.00[AMR][1000 genomes]
rs12869833	0.82[EUR][1000 genomes]
rs12874615	0.82[EUR][1000 genomes]
rs12877107	0.82[EUR][1000 genomes]
rs1631987	0.82[EUR][1000 genomes]
rs166760	0.82[EUR][1000 genomes]
rs17073905	0.82[EUR][1000 genomes]
rs17073919	0.82[EUR][1000 genomes]
rs1747057	0.82[EUR][1000 genomes]
rs1747060	0.82[EUR][1000 genomes]
rs1747061	0.82[EUR][1000 genomes]
rs1747062	0.82[EUR][1000 genomes]
rs1747063	0.82[EUR][1000 genomes]
rs17502757	0.82[EUR][1000 genomes]
rs1772726	0.82[EUR][1000 genomes]
rs2256122	0.80[EUR][1000 genomes]
rs2476650	0.80[EUR][1000 genomes]
rs2476651	0.85[EUR][1000 genomes]
rs2761929	0.82[EUR][1000 genomes]
rs2761930	0.82[EUR][1000 genomes]
rs2761931	0.85[EUR][1000 genomes]
rs2761932	0.82[EUR][1000 genomes]
rs2761934	0.85[EUR][1000 genomes]
rs2761936	0.82[EUR][1000 genomes]
rs278031	0.82[EUR][1000 genomes]
rs278032	0.82[EUR][1000 genomes]
rs278033	0.82[EUR][1000 genomes]
rs278035	0.82[EUR][1000 genomes]
rs278036	0.82[EUR][1000 genomes]
rs278039	0.82[EUR][1000 genomes]
rs278047	0.83[EUR][1000 genomes]
rs2794295	0.82[EUR][1000 genomes]
rs2794300	0.82[EUR][1000 genomes]
rs3118079	0.82[EUR][1000 genomes]
rs3118080	0.82[EUR][1000 genomes]
rs34114731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34129219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34232669	0.82[EUR][1000 genomes]
rs34317115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34333613	0.80[EUR][1000 genomes]
rs34726132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34837672	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34943308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35042630	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35158864	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35177317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35452290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35520191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35693706	0.82[EUR][1000 genomes]
rs35727212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35735441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35828457	0.82[EUR][1000 genomes]
rs35849390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35889915	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35933528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36082926	0.82[EUR][1000 genomes]
rs57634252	0.82[EUR][1000 genomes]
rs71427282	0.82[EUR][1000 genomes]
rs71434756	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71434758	0.82[EUR][1000 genomes]
rs71434759	0.96[EUR][1000 genomes]
rs71434760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71434762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71434763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71434764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71434766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs719199	0.82[EUR][1000 genomes]
rs7985986	0.82[EUR][1000 genomes]
rs7992684	0.82[EUR][1000 genomes]
rs818763	0.82[EUR][1000 genomes]
rs818764	0.82[EUR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30424800-30427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:30424800-30429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30425200-30427600	Enhancers	A549	lung
4	chr13:30425200-30428400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:30425200-30429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30425200-30429800	Weak transcription	Fetal Intestine Small	intestine
7	chr13:30425200-30429800	Weak transcription	Pancreas	Pancrea
8	chr13:30425200-30430000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:30425200-30430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:30425200-30430200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:30425400-30428600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr13:30425400-30429600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:30425400-30429800	Weak transcription	Fetal Lung	lung
14	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:30425400-30430000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:30425400-30430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:30425400-30430000	Weak transcription	Stomach Mucosa	stomach
19	chr13:30425400-30430200	Weak transcription	Fetal Kidney	kidney
20	chr13:30425600-30429800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:30425600-30429800	Weak transcription	Hela-S3	cervix
22	chr13:30425800-30427200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:30426000-30427400	Enhancers	HSMM	muscle
24	chr13:30426000-30427800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:30426200-30427600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr13:30426400-30427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:30426400-30427400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:30426400-30427400	Enhancers	NHDF-Ad	bronchial
29	chr13:30426400-30427600	Enhancers	Adipose Nuclei	Adipose
30	chr13:30426400-30427600	Enhancers	Osteobl	bone
31	chr13:30426600-30427200	Enhancers	HSMMtube	muscle
32	chr13:30426600-30427600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:30426600-30427600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr13:30426600-30427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:30426800-30427200	Enhancers	NH-A	brain
36	chr13:30426800-30427400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:30427000-30427200	Enhancers	Colon Smooth Muscle	Colon

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