Variant report

Variant	rs2514258
Chromosome Location	chr11:67118529-67118530
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67118383..67119258-chr11:67149650..67150647,5	MCF-7	breast:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
3	chr11:67116311..67119142-chr11:67396400..67398010,2	K562	blood:
4	chr11:67116759..67119285-chr11:67234145..67237913,5	MCF-7	breast:
5	chr11:67110615..67115387-chr11:67116003..67119509,5	K562	blood:
6	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
7	chr11:67032220..67037816-chr11:67117433..67120468,5	K562	blood:
8	chr11:67101525..67102192-chr11:67118363..67119277,2	K562	blood:
9	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
10	chr11:67117611..67120390-chr11:67273678..67275891,4	MCF-7	breast:
11	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
12	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
13	chr11:67118410..67119365-chr11:67149709..67150673,6	MCF-7	breast:
14	chr11:67033707..67034241-chr11:67118426..67119286,2	K562	blood:
15	chr11:67006145..67008977-chr11:67116331..67119546,3	MCF-7	breast:
16	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
17	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:
18	chr11:67083542..67085815-chr11:67116401..67118781,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173020	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000167797	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10896167	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896168	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10896169	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227788	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11601700	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11608094	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12276833	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12288107	0.83[ASN][1000 genomes]
rs12290164	0.83[ASN][1000 genomes]
rs12788752	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1540135	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1558256	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1638566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1638567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1638571	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1638574	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790733	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1790740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066496	0.82[ASN][1000 genomes]
rs2071007	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2256154	0.82[ASN][1000 genomes]
rs2286620	0.81[ASN][1000 genomes]
rs2429460	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2429462	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514256	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34596169	0.84[ASN][1000 genomes]
rs3781941	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781943	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3909168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3927807	0.80[EUR][1000 genomes]
rs4024520	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4255546	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930192	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4930197	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930418	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56337023	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs674499	0.83[EUR][1000 genomes]
rs7106352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7480390	0.94[ASN][1000 genomes]
rs872109	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs872110	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
2	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
3	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
4	chr11:67090000-67118600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:67099200-67118600	Weak transcription	Thymus	Thymus
6	chr11:67101600-67118600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:67101600-67118600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:67110200-67118600	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:67112000-67118600	Weak transcription	Dnd41	blood
10	chr11:67112400-67118800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:67113200-67119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:67113400-67118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:67113400-67118600	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:67113400-67118800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:67113400-67118800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:67113800-67120000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:67114000-67118600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:67114000-67118600	Weak transcription	Primary T cells from cord blood	blood
19	chr11:67114000-67118600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:67114000-67118800	Weak transcription	Fetal Lung	lung
21	chr11:67114000-67119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:67114000-67119000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:67114000-67120000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:67114000-67120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:67114200-67118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:67114200-67118600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:67114200-67118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:67114200-67118600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:67114200-67118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:67114200-67118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:67114200-67118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:67114200-67118600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:67114200-67118600	Weak transcription	HepG2	liver
34	chr11:67114200-67118600	Weak transcription	HSMM	muscle
35	chr11:67114200-67118800	Weak transcription	Fetal Kidney	kidney
36	chr11:67114400-67118600	Weak transcription	HMEC	breast
37	chr11:67114400-67118800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:67114600-67118600	Weak transcription	NHEK	skin
39	chr11:67115200-67118600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:67115600-67118600	Enhancers	GM12878-XiMat	blood
41	chr11:67115800-67118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:67115800-67118600	Weak transcription	Lung	lung
43	chr11:67115800-67118600	Weak transcription	NHLF	lung
44	chr11:67115800-67120000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:67116000-67118600	Weak transcription	Colonic Mucosa	Colon
46	chr11:67116000-67118600	Weak transcription	Fetal Thymus	thymus
47	chr11:67116000-67118800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:67116000-67118800	Weak transcription	HUVEC	blood vessel
49	chr11:67116200-67118600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:67116200-67118600	Weak transcription	Hela-S3	cervix

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