Variant report

Variant	rs3862386
Chromosome Location	chr11:65894424-65894425
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65892293..65894742-chr11:65895992..65899282,4	K562	blood:
2	chr11:65887917..65890389-chr11:65892818..65895430,3	K562	blood:
3	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
4	chr11:65892766..65895679-chr11:65910292..65912034,2	MCF-7	breast:
5	chr11:65894077..65895710-chr11:65900818..65903670,2	K562	blood:
6	chr11:65893056..65895986-chr11:65949360..65951068,2	MCF-7	breast:
7	chr11:65835624..65840174-chr11:65890352..65895526,9	MCF-7	breast:
8	chr11:65879009..65884313-chr11:65890112..65896035,10	MCF-7	breast:
9	chr11:65840242..65841877-chr11:65893961..65895607,2	MCF-7	breast:
10	chr11:65835889..65841300-chr11:65890203..65896604,9	MCF-7	breast:
11	chr11:65892231..65894926-chr11:65897218..65898767,2	MCF-7	breast:
12	chr11:65882300..65885934-chr11:65892908..65896262,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1055615	0.94[CEU][hapmap]
rs10750777	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750778	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10750780	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750781	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791838	0.93[CEU][hapmap]
rs10791840	0.93[CEU][hapmap]
rs10791849	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791850	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791851	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791852	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791853	0.93[EUR][1000 genomes]
rs10791854	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791855	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791856	0.93[EUR][1000 genomes]
rs10791858	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791859	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791860	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10791861	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791862	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791863	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896075	0.94[CEU][hapmap]
rs10896076	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10896077	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896080	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896081	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896085	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896087	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896089	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896090	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896091	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896092	0.93[EUR][1000 genomes]
rs10896093	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896094	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896095	0.93[EUR][1000 genomes]
rs10896097	0.93[EUR][1000 genomes]
rs10896098	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896099	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896100	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896105	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227403	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227409	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227410	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227411	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227413	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227414	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227415	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227420	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227426	0.94[EUR][1000 genomes]
rs11227433	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227439	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11227447	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227448	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11607393	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12049852	0.95[EUR][1000 genomes]
rs12226649	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12576969	0.93[CEU][hapmap]
rs12797158	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12797586	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12800670	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1717671	0.89[EUR][1000 genomes]
rs1862005	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1987678	0.95[EUR][1000 genomes]
rs2017969	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2155030	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2155031	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2155198	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155201	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2177053	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2177054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236651	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2236652	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276036	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282568	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293121	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298466	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2298468	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2430979	0.93[CEU][hapmap]
rs2452682	0.93[CEU][hapmap]
rs2889313	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3088328	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3132851	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3814738	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3814744	0.94[CEU][hapmap]
rs3825067	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3953856	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4013917	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4393319	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4483592	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4604890	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs471484	0.93[EUR][1000 genomes]
rs476551	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs485857	0.93[EUR][1000 genomes]
rs488320	0.93[EUR][1000 genomes]
rs512421	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs535395	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs560393	0.84[ASN][1000 genomes]
rs571434	0.93[EUR][1000 genomes]
rs580891	0.96[EUR][1000 genomes]
rs6591203	0.94[CEU][hapmap]
rs6591207	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591208	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7115081	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7120326	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7124165	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127808	0.85[EUR][1000 genomes]
rs730787	0.94[CEU][hapmap]
rs7925123	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926402	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7929909	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931477	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7931544	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935336	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7937281	0.93[EUR][1000 genomes]
rs7941431	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7941469	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs7942894	0.92[EUR][1000 genomes]
rs7943911	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7945723	0.84[ASN][1000 genomes]
rs7946447	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7946917	0.80[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7951079	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs918299	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9645684	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9736673	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65880400-65905000	Weak transcription	Fetal Stomach	stomach
2	chr11:65881000-65894600	Weak transcription	Gastric	stomach
3	chr11:65887200-65900400	Weak transcription	Fetal Brain Male	brain
4	chr11:65888400-65909800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:65888600-65894800	Weak transcription	Ovary	ovary
6	chr11:65891200-65894600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:65891200-65895400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:65891400-65895200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:65891400-65895200	Enhancers	Stomach Mucosa	stomach
10	chr11:65891400-65895600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:65891400-65895600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:65891600-65894600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:65891600-65894600	Enhancers	Hela-S3	cervix
14	chr11:65891800-65894600	Enhancers	Brain Hippocampus Middle	brain
15	chr11:65891800-65895200	Enhancers	Adipose Nuclei	Adipose
16	chr11:65892000-65894600	Enhancers	Duodenum Mucosa	Duodenum
17	chr11:65892000-65895400	Enhancers	Brain Substantia Nigra	brain
18	chr11:65892200-65894800	Enhancers	Small Intestine	intestine
19	chr11:65892400-65894600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:65892400-65896000	Flanking Active TSS	GM12878-XiMat	blood
21	chr11:65893000-65895200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:65893000-65895400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:65893200-65894600	Enhancers	Fetal Thymus	thymus
24	chr11:65893200-65895200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:65893200-65895200	Enhancers	Pancreas	Pancrea
26	chr11:65893400-65894600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:65893400-65895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:65893400-65895000	Enhancers	HSMM	muscle
29	chr11:65893400-65895000	Enhancers	NH-A	brain
30	chr11:65893400-65895400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:65893400-65895400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:65893400-65895400	Enhancers	Brain Angular Gyrus	brain
33	chr11:65893400-65895400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:65893400-65895600	Enhancers	Fetal Heart	heart
35	chr11:65893600-65894600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:65893600-65894600	Enhancers	Fetal Intestine Small	intestine
37	chr11:65893600-65894600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:65893600-65894800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:65893600-65894800	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:65893600-65894800	Enhancers	Fetal Brain Female	brain
41	chr11:65893600-65894800	Enhancers	Thymus	Thymus
42	chr11:65893600-65895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:65893600-65895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:65893600-65895000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:65893600-65895000	Enhancers	Brain Germinal Matrix	brain
46	chr11:65893600-65895000	Flanking Active TSS	NHEK	skin
47	chr11:65893600-65895000	Enhancers	Osteobl	bone
48	chr11:65893600-65895200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:65893600-65895200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:65893600-65895200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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