Variant report

Variant	rs11823923
Chromosome Location	chr11:73061734-73061735
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73061043..73065254-chr11:73095025..73099626,5	MCF-7	breast:
2	chr11:73060033..73062421-chr11:73088511..73090562,2	MCF-7	breast:
3	chr11:73056150..73059125-chr11:73059660..73062281,2	K562	blood:
4	chr11:73018181..73020791-chr11:73060784..73062301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000257038	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10047442	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs10793060	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs10898917	0.96[ASN][1000 genomes]
rs10898920	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs10898925	0.85[CHB][hapmap]
rs11235729	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235743	0.82[CEU][hapmap]
rs11235745	1.00[JPT][hapmap]
rs11235746	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11235759	1.00[JPT][hapmap]
rs11235770	0.82[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11820037	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11823913	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11824050	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828904	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12274589	1.00[JPT][hapmap]
rs12275766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[JPT][hapmap]
rs12288753	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12293998	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938777	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1939382	0.83[CEU][hapmap]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2027763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298469	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366780	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs3741148	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs3741149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3741152	0.85[CHB][hapmap]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55771351	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56397594	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.82[EUR][1000 genomes]
rs57592318	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592523	0.84[CEU][hapmap]
rs7101831	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.96[ASN][1000 genomes]
rs7113420	1.00[JPT][hapmap]
rs7114009	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7114376	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7115605	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115806	0.85[CHB][hapmap]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs7122560	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123298	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs7123985	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125598	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125949	0.85[CHB][hapmap]
rs7125978	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7129990	0.82[CHB][hapmap]
rs7131383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925573	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs7930880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7933754	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7935204	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs7935948	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7936102	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7952686	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs876480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880317	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs947837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9888218	1.00[JPT][hapmap]

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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73075400	Weak transcription	A549	lung
2	chr11:73053800-73064400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:73053800-73065800	Weak transcription	Fetal Kidney	kidney
4	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
5	chr11:73054400-73066600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
7	chr11:73054800-73061800	Weak transcription	Pancreas	Pancrea
8	chr11:73054800-73062200	Weak transcription	Liver	Liver
9	chr11:73054800-73063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:73055000-73071000	Weak transcription	Esophagus	oesophagus
12	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:73055200-73063800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:73055800-73066800	Weak transcription	Colonic Mucosa	Colon
16	chr11:73055800-73068400	Weak transcription	NH-A	brain
17	chr11:73055800-73071800	Weak transcription	Brain Substantia Nigra	brain
18	chr11:73056000-73062000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:73056000-73072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
21	chr11:73056200-73061800	Strong transcription	Fetal Stomach	stomach
22	chr11:73056200-73064200	Weak transcription	NHDF-Ad	bronchial
23	chr11:73056200-73066600	Weak transcription	Brain Angular Gyrus	brain
24	chr11:73056600-73062000	Weak transcription	Fetal Brain Male	brain
25	chr11:73056800-73061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:73057400-73062000	Strong transcription	Fetal Intestine Large	intestine
27	chr11:73057800-73061800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:73057800-73062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:73058000-73062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:73058000-73071200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:73058200-73062000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:73058200-73062000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:73058200-73062200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:73058400-73065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:73058800-73061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:73058800-73064400	Weak transcription	HSMMtube	muscle
37	chr11:73059000-73062000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:73059000-73062000	Weak transcription	HMEC	breast
39	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:73059200-73062000	Weak transcription	Brain Anterior Caudate	brain
41	chr11:73059200-73063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:73059200-73063800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:73059200-73071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:73059400-73061800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:73059400-73061800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:73059600-73061800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:73059600-73063800	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:73059600-73063800	Weak transcription	Fetal Lung	lung
50	chr11:73059600-73063800	Weak transcription	HSMM	muscle

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