Variant report

Variant	rs2017969
Chromosome Location	chr11:66039032-66039033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66034813..66037719-chr11:66037930..66039835,3	MCF-7	breast:
2	chr11:66038976..66041430-chr11:66054512..66056823,2	MCF-7	breast:
3	chr11:66036265..66039186-chr11:66074799..66077052,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174903	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174851	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10750777	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10750778	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10750780	0.85[ASN][1000 genomes]
rs10750781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791849	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791850	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791851	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791852	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791854	0.94[ASN][1000 genomes]
rs10791855	0.94[ASN][1000 genomes]
rs10791858	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791859	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791860	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10791861	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791862	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791863	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896077	0.80[EUR][1000 genomes]
rs10896080	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896081	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896085	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896087	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896089	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896090	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896091	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896093	0.91[ASN][1000 genomes]
rs10896094	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896098	0.92[ASN][1000 genomes]
rs10896099	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896100	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896105	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227403	0.80[EUR][1000 genomes]
rs11227409	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227410	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227411	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227413	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227414	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227415	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227420	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227433	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11227439	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227447	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227448	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227452	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607393	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12226649	0.80[EUR][1000 genomes]
rs12797158	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12797586	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12800670	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1862005	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2155030	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155031	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155198	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155201	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2177053	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177054	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236651	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236652	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276036	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282568	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293121	0.93[ASN][1000 genomes]
rs2298466	0.96[ASN][1000 genomes]
rs2298468	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2889313	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3132851	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814738	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825067	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862386	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3953856	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4013917	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4393319	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4483592	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs476551	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512421	0.95[ASN][1000 genomes]
rs560393	0.91[ASN][1000 genomes]
rs580891	0.80[EUR][1000 genomes]
rs6591207	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591208	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7115081	0.81[EUR][1000 genomes]
rs7120326	0.80[EUR][1000 genomes]
rs7124165	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71270566	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7925123	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7926402	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7929909	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931477	0.86[ASN][1000 genomes]
rs7931544	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7935336	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7941431	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7943911	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7945723	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7946917	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7951079	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs918299	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645684	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9736673	0.82[EUR][1000 genomes];0.86[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2017969	RP11-755F10.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66037000-66039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66037000-66039800	Weak transcription	Small Intestine	intestine
3	chr11:66037200-66039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:66037200-66039400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:66037200-66039400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:66037200-66039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:66037200-66039400	Weak transcription	Ovary	ovary
8	chr11:66037200-66039400	Weak transcription	HSMMtube	muscle
9	chr11:66037200-66039600	Weak transcription	Aorta	Aorta
10	chr11:66037200-66039800	Weak transcription	Fetal Kidney	kidney
11	chr11:66037400-66039200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:66037400-66039200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:66037400-66044600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:66037400-66044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:66037600-66039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:66037600-66039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66037600-66039200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:66037600-66039200	Weak transcription	Brain Germinal Matrix	brain
19	chr11:66037600-66039200	Weak transcription	Fetal Brain Female	brain
20	chr11:66037600-66039200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:66037600-66039400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:66037600-66039400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:66037600-66039400	Weak transcription	Fetal Brain Male	brain
24	chr11:66037600-66039400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:66037600-66039400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:66037600-66039400	Weak transcription	HMEC	breast
27	chr11:66037600-66039400	Weak transcription	HSMM	muscle
28	chr11:66037600-66039600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:66037600-66039600	Genic enhancers	Spleen	Spleen
30	chr11:66037600-66039600	Weak transcription	NHDF-Ad	bronchial
31	chr11:66037600-66040000	Weak transcription	NH-A	brain
32	chr11:66037600-66043600	Strong transcription	Osteobl	bone
33	chr11:66037600-66044600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:66037600-66045000	Genic enhancers	Fetal Thymus	thymus
35	chr11:66037800-66039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:66037800-66039200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:66037800-66039200	Weak transcription	Hela-S3	cervix
38	chr11:66037800-66039400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:66037800-66040000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:66037800-66040000	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr11:66037800-66044000	Strong transcription	NHEK	skin
42	chr11:66037800-66044200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:66037800-66044600	Strong transcription	Fetal Intestine Small	intestine
44	chr11:66037800-66044800	Strong transcription	Fetal Stomach	stomach
45	chr11:66038000-66039400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:66038000-66040200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr11:66038000-66042600	Strong transcription	A549	lung
48	chr11:66038000-66042800	Strong transcription	K562	blood
49	chr11:66038000-66043000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr11:66038000-66043200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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