Variant report

Variant	rs73543251
Chromosome Location	chr11:72458104-72458105
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72451471..72458825-chr11:72459585..72465738,9	MCF-7	breast:
2	chr11:72457263..72459672-chr11:72491843..72494369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs57512065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72446800-72459200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr11:72447400-72459000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:72448600-72461000	Weak transcription	Dnd41	blood
5	chr11:72449600-72462200	Weak transcription	HSMM	muscle
6	chr11:72449800-72462200	Weak transcription	Gastric	stomach
7	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:72451000-72461000	Weak transcription	Primary T cells from cord blood	blood
9	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
10	chr11:72452400-72461000	Weak transcription	Pancreas	Pancrea
11	chr11:72452400-72461400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:72453000-72458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:72453000-72459000	Enhancers	K562	blood
14	chr11:72453000-72461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:72453200-72461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:72453200-72462200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:72453200-72462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:72453400-72461600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:72453400-72462000	Weak transcription	NHLF	lung
20	chr11:72453400-72462200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:72453600-72461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:72453600-72461600	Weak transcription	Small Intestine	intestine
23	chr11:72453600-72461800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:72453600-72461800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:72453600-72462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:72453600-72462200	Weak transcription	HMEC	breast
27	chr11:72453600-72462400	Weak transcription	Left Ventricle	heart
28	chr11:72453800-72458800	Enhancers	HepG2	liver
29	chr11:72453800-72459000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:72453800-72461400	Weak transcription	Fetal Lung	lung
31	chr11:72453800-72461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:72453800-72462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:72453800-72462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:72453800-72462400	Weak transcription	Esophagus	oesophagus
35	chr11:72454000-72462000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:72454200-72462400	Weak transcription	Fetal Heart	heart
37	chr11:72455000-72461200	Weak transcription	Placenta	Placenta
38	chr11:72455200-72460000	Weak transcription	Colonic Mucosa	Colon
39	chr11:72455200-72461200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:72455400-72459600	Weak transcription	Liver	Liver
41	chr11:72455400-72460200	Weak transcription	Hela-S3	cervix
42	chr11:72455400-72462200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:72455800-72458800	Enhancers	Primary B cells from cord blood	blood
44	chr11:72455800-72459600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:72455800-72461200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:72455800-72461600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:72455800-72462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:72455800-72462200	Weak transcription	Right Ventricle	heart
49	chr11:72456000-72459600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:72456000-72459800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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