Variant report

Variant	rs2282482
Chromosome Location	chr11:58875024-58875025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58873805..58875305-chr17:41466179..41467880,2	MCF-7	breast:
2	chr11:58873805..58876804-chr17:41466274..41467888,2	K562	blood:
3	chr11:58874735..58876453-chr11:58878007..58880480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10128559	0.89[ASN][1000 genomes]
rs10128661	0.86[EUR][1000 genomes]
rs10437720	0.95[EUR][1000 genomes]
rs10792219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792221	0.92[EUR][1000 genomes]
rs10896914	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896925	0.95[EUR][1000 genomes]
rs10896926	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10896928	0.93[EUR][1000 genomes]
rs10896929	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896930	0.92[EUR][1000 genomes]
rs10896931	0.95[EUR][1000 genomes]
rs10896932	0.92[EUR][1000 genomes]
rs10896933	0.91[EUR][1000 genomes]
rs10896934	0.85[EUR][1000 genomes]
rs10896935	0.83[EUR][1000 genomes]
rs10896936	0.91[EUR][1000 genomes]
rs10896937	0.91[EUR][1000 genomes]
rs10896938	0.83[EUR][1000 genomes]
rs11229795	0.89[ASN][1000 genomes]
rs11229798	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229799	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229800	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229801	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11229837	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11229840	0.91[EUR][1000 genomes]
rs11229848	0.89[EUR][1000 genomes]
rs11229849	0.92[EUR][1000 genomes]
rs11229851	0.92[EUR][1000 genomes]
rs11229852	0.92[EUR][1000 genomes]
rs11229854	0.92[EUR][1000 genomes]
rs11229856	0.91[EUR][1000 genomes]
rs11823977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11825017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12271831	0.94[EUR][1000 genomes]
rs12272113	0.92[EUR][1000 genomes]
rs12274008	0.92[EUR][1000 genomes]
rs12275487	0.90[EUR][1000 genomes]
rs12278163	0.92[EUR][1000 genomes]
rs12280068	0.92[EUR][1000 genomes]
rs12283633	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12292185	0.90[EUR][1000 genomes]
rs12293649	0.92[EUR][1000 genomes]
rs12293695	0.92[EUR][1000 genomes]
rs12362905	0.92[EUR][1000 genomes]
rs12802129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17153379	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17153383	0.95[EUR][1000 genomes]
rs17153415	0.89[EUR][1000 genomes]
rs1938588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1938589	0.95[EUR][1000 genomes]
rs1938781	0.93[EUR][1000 genomes]
rs1943146	0.86[ASN][1000 genomes]
rs1943147	0.86[ASN][1000 genomes]
rs2096544	0.92[EUR][1000 genomes]
rs2096586	0.86[EUR][1000 genomes]
rs2096587	0.90[EUR][1000 genomes]
rs2105506	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2105507	0.92[EUR][1000 genomes]
rs2154628	0.84[EUR][1000 genomes]
rs2186380	0.92[EUR][1000 genomes]
rs2282483	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844342	0.88[ASN][1000 genomes]
rs2849739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34027305	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34239454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34501069	0.92[EUR][1000 genomes]
rs35293773	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3802961	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs474847	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs530386	0.81[ASN][1000 genomes]
rs55657403	0.86[EUR][1000 genomes]
rs55689653	0.92[EUR][1000 genomes]
rs55989038	0.84[EUR][1000 genomes]
rs56137001	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56239606	0.85[EUR][1000 genomes]
rs58722008	0.87[EUR][1000 genomes]
rs61902181	0.92[EUR][1000 genomes]
rs61902223	0.92[EUR][1000 genomes]
rs7126078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7933787	0.92[EUR][1000 genomes]
rs7950880	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv3393019	chr11:58679419-58880845	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv428258	chr11:58700092-58878839	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv832171	chr11:58725930-58878839	Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv469559	chr11:58730785-58887639	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv482906	chr11:58730785-58887639	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv471671	chr11:58730786-58887639	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv468578	chr11:58790628-58901763	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv555147	chr11:58790628-58901763	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1043956	chr11:58818144-58882570	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv3367089	chr11:58872776-58875774	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58873200-58875600	Active TSS	GM12878-XiMat	blood
2	chr11:58873400-58875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:58873600-58875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:58873600-58875200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr11:58873600-58875400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:58873600-58875600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:58873600-58876000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:58873800-58875200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:58873800-58875200	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:58873800-58875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:58873800-58875600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:58873800-58875600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:58873800-58876000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:58873800-58876000	Active TSS	Fetal Brain Female	brain
15	chr11:58873800-58876000	Active TSS	Fetal Kidney	kidney
16	chr11:58873800-58876000	Active TSS	A549	lung
17	chr11:58873800-58876000	Active TSS	NHDF-Ad	bronchial
18	chr11:58874000-58875200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:58874000-58875200	Active TSS	Brain Substantia Nigra	brain
20	chr11:58874000-58875200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:58874000-58875400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:58874000-58875400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:58874000-58875400	Active TSS	Colonic Mucosa	Colon
24	chr11:58874000-58875400	Active TSS	Esophagus	oesophagus
25	chr11:58874000-58875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:58874000-58875800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr11:58874000-58875800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:58874000-58875800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:58874000-58875800	Active TSS	NHLF	lung
30	chr11:58874000-58876000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:58874000-58876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:58874200-58875200	Active TSS	Dnd41	blood
33	chr11:58874200-58875200	Active TSS	HepG2	liver
34	chr11:58874200-58875600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:58874200-58875800	Active TSS	Hela-S3	cervix
36	chr11:58874400-58875200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr11:58874400-58876000	Enhancers	Spleen	Spleen
38	chr11:58874600-58875200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:58874600-58875200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr11:58874600-58875200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:58874600-58875200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:58874600-58875400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr11:58874600-58875400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:58874600-58875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:58874600-58875400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr11:58874600-58875400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:58874600-58875400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:58874600-58875400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:58874600-58875400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr11:58874600-58875400	Flanking Active TSS	Fetal Thymus	thymus

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