Variant report

Variant	rs4307676
Chromosome Location	chr11:46668395-46668396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46638726..46640621-chr11:46667581..46669976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10160701	0.84[EUR][1000 genomes]
rs10838602	0.87[EUR][1000 genomes]
rs11038897	0.87[EUR][1000 genomes]
rs11038900	0.86[EUR][1000 genomes]
rs11038906	0.85[EUR][1000 genomes]
rs11038914	0.84[EUR][1000 genomes]
rs11038919	0.88[EUR][1000 genomes]
rs11038927	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11038974	0.83[EUR][1000 genomes]
rs11819869	0.84[EUR][1000 genomes]
rs12272795	0.83[EUR][1000 genomes]
rs12283172	0.87[EUR][1000 genomes]
rs12292425	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12295266	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12573978	0.87[EUR][1000 genomes]
rs12574250	0.84[EUR][1000 genomes]
rs12574259	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12574668	0.85[EUR][1000 genomes]
rs12574918	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12575519	0.85[EUR][1000 genomes]
rs12576317	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12576359	0.87[EUR][1000 genomes]
rs12578042	0.86[EUR][1000 genomes]
rs1472001	0.85[EUR][1000 genomes]
rs1489192	0.86[EUR][1000 genomes]
rs16938506	0.87[EUR][1000 genomes]
rs2046768	0.87[EUR][1000 genomes]
rs2067482	0.87[EUR][1000 genomes]
rs2171667	0.87[EUR][1000 genomes]
rs2171668	0.87[EUR][1000 genomes]
rs2279465	0.87[EUR][1000 genomes]
rs2291487	0.87[EUR][1000 genomes]
rs2864072	0.87[EUR][1000 genomes]
rs2864076	0.87[EUR][1000 genomes]
rs2902858	0.86[EUR][1000 genomes]
rs34406563	0.84[EUR][1000 genomes]
rs35623865	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740974	0.87[EUR][1000 genomes]
rs3740977	0.86[EUR][1000 genomes]
rs3802888	0.86[EUR][1000 genomes]
rs4319473	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4423142	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55657382	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55661562	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55896955	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56349329	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57535407	0.87[EUR][1000 genomes]
rs57739486	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57744667	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58147945	0.86[EUR][1000 genomes]
rs60722866	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60932698	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882691	0.87[EUR][1000 genomes]
rs61882701	0.87[EUR][1000 genomes]
rs61882702	0.87[EUR][1000 genomes]
rs61882706	0.86[EUR][1000 genomes]
rs61882709	0.87[EUR][1000 genomes]
rs61882710	0.87[EUR][1000 genomes]
rs61882711	0.87[EUR][1000 genomes]
rs61882712	0.85[EUR][1000 genomes]
rs61882720	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61882743	0.83[EUR][1000 genomes]
rs61882746	0.86[EUR][1000 genomes]
rs61882748	0.87[EUR][1000 genomes]
rs61882750	0.88[EUR][1000 genomes]
rs61882756	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882757	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882758	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884262	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884264	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884271	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884292	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884295	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884301	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6485682	0.87[EUR][1000 genomes]
rs6485685	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108770	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109698	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112229	0.85[EUR][1000 genomes]
rs7122039	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7125907	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126343	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7127529	0.88[EUR][1000 genomes]
rs7128092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130141	0.86[EUR][1000 genomes]
rs73449983	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7481312	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7484002	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924401	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926389	0.87[EUR][1000 genomes]
rs7930103	0.85[EUR][1000 genomes]
rs7936413	0.87[EUR][1000 genomes]
rs7946705	0.87[EUR][1000 genomes]
rs7951579	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:46640800-46670600	Weak transcription	Fetal Heart	heart
3	chr11:46640800-46670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:46640800-46673000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:46647200-46670800	Weak transcription	Aorta	Aorta
9	chr11:46647400-46670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:46647600-46670200	Weak transcription	NHLF	lung
11	chr11:46650800-46669600	Weak transcription	Right Atrium	heart
12	chr11:46652200-46678400	Weak transcription	Fetal Brain Male	brain
13	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:46652400-46670800	Weak transcription	Fetal Kidney	kidney
15	chr11:46653200-46668600	Weak transcription	Colonic Mucosa	Colon
16	chr11:46653800-46670800	Weak transcription	Small Intestine	intestine
17	chr11:46654200-46671800	Weak transcription	HMEC	breast
18	chr11:46654400-46669200	Weak transcription	HUVEC	blood vessel
19	chr11:46656600-46691200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46657000-46669000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:46659200-46670600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46659600-46695200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:46661000-46681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:46661200-46671600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:46662200-46668800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:46662400-46676200	Weak transcription	Stomach Mucosa	stomach
27	chr11:46662600-46669400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:46664000-46669600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:46664000-46680400	Strong transcription	Fetal Intestine Large	intestine
30	chr11:46664000-46690600	Strong transcription	Primary T cells from cord blood	blood
31	chr11:46664200-46669000	Strong transcription	HepG2	liver
32	chr11:46664200-46669400	Strong transcription	HSMM	muscle
33	chr11:46664200-46680600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:46664200-46680600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46664200-46689600	Strong transcription	Dnd41	blood
36	chr11:46664200-46692600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:46664200-46695400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:46664400-46685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:46664400-46691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:46664400-46691400	Strong transcription	Fetal Thymus	thymus
41	chr11:46664600-46669800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:46664800-46679800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:46665200-46669400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:46665200-46675000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:46665400-46675000	Strong transcription	Primary B cells from cord blood	blood
46	chr11:46665600-46669600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:46665600-46669800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:46665600-46669800	Strong transcription	Adipose Nuclei	Adipose
49	chr11:46665600-46670000	Strong transcription	Liver	Liver
50	chr11:46665600-46680600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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