Variant report

Variant	rs7124165
Chromosome Location	chr11:65901218-65901219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65778409..65780910-chr11:65899288..65901458,2	MCF-7	breast:
2	chr11:65894077..65895710-chr11:65900818..65903670,2	K562	blood:
3	chr11:65899561..65902107-chr11:65903112..65905957,2	MCF-7	breast:
4	chr11:65899578..65902503-chr11:65902811..65904748,2	K562	blood:
5	chr11:65833892..65843127-chr11:65900837..65907449,12	MCF-7	breast:
6	chr11:65900786..65903675-chr11:65962216..65963909,2	MCF-7	breast:
7	chr11:65834370..65841898-chr11:65897925..65905090,13	MCF-7	breast:
8	chr11:65896592..65899569-chr11:65899884..65901389,2	K562	blood:
9	chr11:65812504..65815359-chr11:65900804..65903799,2	MCF-7	breast:
10	chr11:65827395..65828897-chr11:65899859..65901664,2	K562	blood:
11	chr11:65815794..65817513-chr11:65899681..65902337,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000175315	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10750777	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750780	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10750781	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791849	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791850	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791851	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791852	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791853	0.94[EUR][1000 genomes]
rs10791854	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791855	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791856	0.93[EUR][1000 genomes]
rs10791858	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791859	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791860	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791861	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791862	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791863	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896076	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10896077	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896080	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896081	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896085	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896087	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896089	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896090	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896091	1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896092	0.94[EUR][1000 genomes]
rs10896093	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896094	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896095	0.93[EUR][1000 genomes]
rs10896097	0.94[EUR][1000 genomes]
rs10896098	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896099	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896100	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896105	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227403	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227409	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227410	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227411	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227413	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227414	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227415	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227420	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227426	0.95[EUR][1000 genomes]
rs11227433	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11227439	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227447	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227448	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227452	0.80[ASN][1000 genomes]
rs11607393	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12049852	0.96[EUR][1000 genomes]
rs12226649	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12797158	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12797586	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800670	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1717671	0.90[EUR][1000 genomes]
rs1862005	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1987678	0.96[EUR][1000 genomes]
rs2017969	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2155030	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155031	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155198	0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2155201	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2177053	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2177054	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236651	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236652	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276036	0.92[JPT][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2282568	0.93[JPT][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2293121	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298466	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2298468	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2889313	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3088328	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3132851	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3814738	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3825067	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862386	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3953856	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4013917	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4393319	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4483592	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4604890	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs471484	0.94[EUR][1000 genomes]
rs476551	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs485857	0.94[EUR][1000 genomes]
rs488320	0.94[EUR][1000 genomes]
rs512421	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs535395	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs560393	0.86[ASN][1000 genomes]
rs571434	0.94[EUR][1000 genomes]
rs580891	0.97[EUR][1000 genomes]
rs6591207	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591208	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7115081	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120326	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71270566	0.80[EUR][1000 genomes]
rs7127808	0.86[EUR][1000 genomes]
rs7925123	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7926402	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7929909	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931477	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931544	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7935336	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937281	0.94[EUR][1000 genomes]
rs7941431	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7941469	0.96[EUR][1000 genomes]
rs7942894	0.93[EUR][1000 genomes]
rs7943911	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7945723	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7946447	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7946917	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7951079	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs918299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9645684	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9736673	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
2	chr11:65888400-65909800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65894200-65904000	Weak transcription	HepG2	liver
4	chr11:65894400-65904600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:65894400-65909000	Weak transcription	K562	blood
6	chr11:65894600-65901800	Weak transcription	Hela-S3	cervix
7	chr11:65894800-65902600	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
9	chr11:65895000-65901400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:65895000-65909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:65895000-65917600	Weak transcription	HSMM	muscle
13	chr11:65895200-65903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:65895200-65903400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:65895200-65904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:65895200-65905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:65895200-65905000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:65895200-65905000	Weak transcription	Right Ventricle	heart
19	chr11:65895200-65907600	Weak transcription	Pancreas	Pancrea
20	chr11:65895200-65912200	Weak transcription	Lung	lung
21	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
22	chr11:65895400-65901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:65895400-65904200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:65895400-65905000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:65895400-65909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:65895400-65910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65895600-65909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:65895600-65909800	Weak transcription	NHEK	skin
29	chr11:65896200-65902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:65896400-65901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:65896600-65901800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:65896600-65907800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:65896600-65912800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:65897000-65901400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:65897000-65903800	Enhancers	A549	lung
36	chr11:65897400-65901800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:65897800-65902000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:65898200-65901400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:65898400-65901600	Enhancers	Primary B cells from cord blood	blood
40	chr11:65898400-65902200	Enhancers	Primary T cells from cord blood	blood
41	chr11:65898400-65913000	Weak transcription	Spleen	Spleen
42	chr11:65899000-65901800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:65899400-65901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65899400-65902200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:65899600-65902200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:65900000-65902800	Enhancers	GM12878-XiMat	blood
47	chr11:65900000-65907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:65900000-65909800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:65900400-65902200	Enhancers	Fetal Brain Male	brain
50	chr11:65900800-65901400	Enhancers	Right Atrium	heart

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