Variant report

Variant	rs11227414
Chromosome Location	chr11:65884814-65884815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
2	chr11:65836821..65841267-chr11:65881295..65888359,12	MCF-7	breast:
3	chr11:65873298..65876282-chr11:65883315..65885397,2	K562	blood:
4	chr11:65847681..65850551-chr11:65884444..65887331,2	MCF-7	breast:
5	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
6	chr11:65882960..65886510-chr11:65888191..65894408,6	K562	blood:
7	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000255038	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	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750778	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10750780	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10750781	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791849	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791850	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791851	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791852	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791853	0.96[EUR][1000 genomes]
rs10791854	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791855	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791856	0.95[EUR][1000 genomes]
rs10791858	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791859	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791860	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791861	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10791862	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791863	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896076	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896077	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896085	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896087	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896089	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896090	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896091	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896092	0.96[EUR][1000 genomes]
rs10896093	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896094	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896095	0.95[EUR][1000 genomes]
rs10896097	0.96[EUR][1000 genomes]
rs10896098	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896099	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896100	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896105	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227403	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227409	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227410	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11227415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227420	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227426	0.97[EUR][1000 genomes]
rs11227433	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227439	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227447	0.83[ASN][1000 genomes]
rs11227448	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12049852	0.98[EUR][1000 genomes]
rs12226649	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12797158	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12797586	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12800670	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1717671	0.91[EUR][1000 genomes]
rs1862005	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1987678	0.98[EUR][1000 genomes]
rs2017969	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155030	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155031	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155198	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155201	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2177053	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2177054	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236651	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236652	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276036	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282568	0.82[ASN][1000 genomes]
rs2293121	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298466	0.87[ASN][1000 genomes]
rs2298468	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2889313	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3088328	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3132851	0.83[ASN][1000 genomes]
rs3814738	0.83[ASN][1000 genomes]
rs3825067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3862386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3953856	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4013917	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4393319	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4483592	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4604890	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs471484	0.96[EUR][1000 genomes]
rs472518	0.81[EUR][1000 genomes]
rs476551	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs485857	0.96[EUR][1000 genomes]
rs488320	0.95[EUR][1000 genomes]
rs512421	0.86[ASN][1000 genomes]
rs527897	0.81[EUR][1000 genomes]
rs535395	0.98[EUR][1000 genomes]
rs560393	0.83[ASN][1000 genomes]
rs571434	0.95[EUR][1000 genomes]
rs580891	0.95[EUR][1000 genomes]
rs6591207	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591208	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115081	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7120326	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7124165	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127808	0.85[EUR][1000 genomes]
rs7925123	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926402	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929909	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931477	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931544	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7935336	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7937281	0.96[EUR][1000 genomes]
rs7941431	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7941469	0.98[EUR][1000 genomes]
rs7942894	0.94[EUR][1000 genomes]
rs7943911	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7945723	0.83[ASN][1000 genomes]
rs7946447	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7946917	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7951079	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs918299	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645684	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9736673	1.00[EUR][1000 genomes];0.97[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
7	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65880000-65885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:65880000-65885800	Weak transcription	Right Ventricle	heart
10	chr11:65880000-65887000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:65880200-65885800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:65880200-65885800	Weak transcription	Esophagus	oesophagus
13	chr11:65880400-65886400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:65880400-65886400	Enhancers	Hela-S3	cervix
15	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
16	chr11:65880600-65886400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:65880600-65894400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:65881000-65886400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:65881000-65886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:65881000-65886800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:65881000-65892000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:65881000-65894600	Weak transcription	Gastric	stomach
23	chr11:65881200-65886200	Weak transcription	NHLF	lung
24	chr11:65881200-65886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:65881200-65886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:65881400-65888600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:65881600-65885600	Weak transcription	NHDF-Ad	bronchial
28	chr11:65881600-65885800	Weak transcription	HMEC	breast
29	chr11:65881600-65886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:65881600-65886400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:65881600-65886400	Weak transcription	Fetal Brain Male	brain
32	chr11:65881600-65893800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:65882000-65885400	Weak transcription	NHEK	skin
34	chr11:65882400-65885000	Enhancers	Thymus	Thymus
35	chr11:65883000-65885000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:65883200-65885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:65883200-65886400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:65883400-65886800	Weak transcription	Fetal Kidney	kidney
39	chr11:65883600-65885400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:65883800-65885000	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:65883800-65885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:65883800-65885400	Weak transcription	Osteobl	bone
43	chr11:65883800-65885600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:65883800-65886400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:65883800-65886400	Weak transcription	HSMMtube	muscle
46	chr11:65883800-65886400	Weak transcription	K562	blood
47	chr11:65883800-65886800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:65883800-65886800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:65883800-65887000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:65883800-65887000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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