Variant report

Variant	rs2298807
Chromosome Location	chr11:73068571-73068572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73068546..73070976-chr11:73088795..73090535,2	K562	blood:
2	chr11:73064557..73071332-chr11:73071606..73076683,10	K562	blood:
3	chr11:73067211..73073171-chr11:73086403..73091347,7	K562	blood:
4	chr11:73067230..73070036-chr11:73086691..73088846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

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	0.84[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	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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]
rs11823923	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]
rs11824050	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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	0.96[AMR][1000 genomes];0.94[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];0.96[AMR][1000 genomes];0.95[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];0.92[AMR][1000 genomes];0.97[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	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[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]
rs2366780	0.88[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]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55771351	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56397594	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.84[EUR][1000 genomes]
rs57592318	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[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];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7119167	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs7122560	0.84[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]
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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[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	0.94[AMR][1000 genomes];0.92[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	0.96[AMR][1000 genomes];0.95[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];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944346	1.00[JPT][hapmap]
rs7949364	0.96[ASN][1000 genomes]
rs7950002	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs7952686	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs876480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[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:4 , 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	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
4	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	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
3	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
4	chr11:73054800-73072800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:73055000-73071000	Weak transcription	Esophagus	oesophagus
6	chr11:73055000-73072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:73055000-73072800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:73055800-73071800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:73056000-73072200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:73056000-73077200	Weak transcription	Right Atrium	heart
11	chr11:73058000-73071200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:73059000-73074000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:73059200-73071400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:73059600-73070400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:73059800-73068600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
18	chr11:73060200-73077000	Weak transcription	GM12878-XiMat	blood
19	chr11:73062200-73070000	Weak transcription	HMEC	breast
20	chr11:73062200-73075000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:73062200-73077600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:73062600-73072400	Weak transcription	Hela-S3	cervix
23	chr11:73062600-73073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:73062600-73077000	Weak transcription	Fetal Brain Male	brain
25	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
27	chr11:73062600-73087400	Weak transcription	Liver	Liver
28	chr11:73062800-73071800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:73063400-73069400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:73063400-73070000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73063400-73070000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
34	chr11:73063600-73068600	Strong transcription	Spleen	Spleen
35	chr11:73063600-73068800	Strong transcription	Aorta	Aorta
36	chr11:73063600-73069000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:73063600-73069000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:73063600-73069800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:73063600-73077200	Strong transcription	Ovary	ovary
40	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73063800-73070000	Strong transcription	HSMM	muscle
43	chr11:73063800-73071200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:73063800-73071200	Strong transcription	Left Ventricle	heart
45	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
46	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73064000-73068800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73064000-73068800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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