Variant report

Variant	rs669813
Chromosome Location	chr11:85762244-85762245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85760823..85766402-chr11:85776742..85780604,5	K562	blood:
2	chr11:85758079..85763459-chr11:85776941..85781307,6	MCF-7	breast:
3	chr11:85752345..85755214-chr11:85762057..85763811,2	K562	blood:
4	chr11:85759677..85764331-chr11:85767246..85771680,6	K562	blood:
5	chr11:85762145..85764012-chr11:85775530..85778515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10751134	0.95[JPT][hapmap];0.82[YRI][hapmap]
rs10792830	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10792831	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10792832	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap]
rs10898438	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10898439	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11234493	0.83[AFR][1000 genomes]
rs1214669	0.87[ASN][1000 genomes]
rs1898895	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1949221	0.88[ASN][1000 genomes]
rs1973630	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2077815	0.83[AFR][1000 genomes]
rs2458493	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2458496	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2458499	0.85[AFR][1000 genomes]
rs2458500	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2508379	0.81[AMR][1000 genomes]
rs2508381	0.88[ASN][1000 genomes]
rs2508688	0.87[AFR][1000 genomes]
rs2508691	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2508693	0.90[ASN][1000 genomes]
rs2508696	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2508697	0.86[ASN][1000 genomes]
rs2509608	1.00[YRI][hapmap]
rs2509609	0.85[AFR][1000 genomes]
rs3016240	0.94[ASN][1000 genomes]
rs3016786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3851178	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3851179	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs472618	0.83[AFR][1000 genomes]
rs475639	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs478711	0.84[ASN][1000 genomes]
rs480781	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs484154	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs489486	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs493254	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944560	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs497816	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs519778	0.94[ASN][1000 genomes]
rs526904	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs527162	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs529904	0.84[ASN][1000 genomes]
rs532470	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs535590	0.83[EUR][1000 genomes]
rs536841	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs541458	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs541674	0.88[ASN][1000 genomes]
rs542126	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs542167	0.83[AFR][1000 genomes]
rs545592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs548121	0.80[AFR][1000 genomes]
rs553141	0.87[ASN][1000 genomes]
rs556562	0.85[AFR][1000 genomes]
rs561646	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs563773	0.82[ASN][1000 genomes]
rs565031	0.80[ASN][1000 genomes]
rs565719	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs572979	0.82[ASN][1000 genomes]
rs585820	0.90[AFR][1000 genomes]
rs587038	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs588076	0.83[AFR][1000 genomes]
rs592297	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs592314	0.83[AFR][1000 genomes]
rs595972	0.83[AFR][1000 genomes]
rs600743	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs601185	0.87[AFR][1000 genomes]
rs602222	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs606505	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs609903	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs613222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs616555	0.83[AFR][1000 genomes]
rs618629	0.87[AFR][1000 genomes]
rs618679	0.83[AFR][1000 genomes]
rs626542	0.83[AFR][1000 genomes]
rs629343	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs631639	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs635168	0.85[AFR][1000 genomes]
rs636355	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs636772	0.84[ASN][1000 genomes]
rs637304	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs639012	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs642949	0.85[ASN][1000 genomes]
rs645299	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs647422	0.94[ASN][1000 genomes]
rs648270	0.85[AFR][1000 genomes]
rs654194	0.85[AFR][1000 genomes]
rs655641	0.87[AFR][1000 genomes]
rs659023	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs659863	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs666682	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs670606	0.85[AFR][1000 genomes]
rs671686	0.87[ASN][1000 genomes]
rs673751	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs676733	0.91[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs677869	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677909	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs682928	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs683494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs694011	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7114331	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7114401	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7129687	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs75751	0.83[AFR][1000 genomes]
rs7941541	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs7951988	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs867611	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85746600-85762800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85752400-85768400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:85752800-85768200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:85753000-85763000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:85753200-85764600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:85753200-85768000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:85754000-85764000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:85754200-85764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:85754200-85765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:85754400-85763000	Weak transcription	HUVEC	blood vessel
12	chr11:85754400-85768200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:85754600-85762600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:85755200-85762800	Weak transcription	Fetal Lung	lung
15	chr11:85755800-85763000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:85755800-85764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:85755800-85764000	Weak transcription	HepG2	liver
18	chr11:85756000-85763800	Weak transcription	Spleen	Spleen
19	chr11:85756000-85764200	Weak transcription	Aorta	Aorta
20	chr11:85756000-85765400	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:85756000-85767000	Enhancers	Brain Hippocampus Middle	brain
22	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
23	chr11:85756600-85763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:85756600-85763800	Weak transcription	Gastric	stomach
25	chr11:85756600-85765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:85757600-85762400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:85758200-85765600	Enhancers	Ovary	ovary
29	chr11:85758400-85763000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:85758400-85765400	Weak transcription	HSMM	muscle
31	chr11:85758600-85762400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:85758600-85762400	Weak transcription	NHLF	lung
33	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:85758600-85763800	Weak transcription	NH-A	brain
36	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:85758800-85763600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:85758800-85763600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:85758800-85763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:85758800-85763600	Weak transcription	HMEC	breast
41	chr11:85758800-85763800	Weak transcription	Fetal Intestine Small	intestine
42	chr11:85758800-85763800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:85759000-85763600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:85759000-85765400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:85759000-85773600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:85759400-85763000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:85759400-85763600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:85759400-85763800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:85759400-85764000	Weak transcription	Right Ventricle	heart
50	chr11:85759400-85766000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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