Variant report

Variant	rs4982236
Chromosome Location	chr14:35468046-35468047
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35465599..35469103-chr14:35471087..35474391,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10130069	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10130509	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10130773	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10134907	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134914	0.88[ASN][1000 genomes]
rs10136059	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10140135	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142667	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142861	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144430	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10145433	0.84[ASN][1000 genomes]
rs10145723	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146407	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146699	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148691	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10151273	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10151720	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1028448	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11156871	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11540758	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437439	0.83[ASN][1000 genomes]
rs12588810	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13379372	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1568200	0.87[ASN][1000 genomes]
rs17091786	0.87[ASN][1000 genomes]
rs17102962	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17103042	0.84[ASN][1000 genomes]
rs2038254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273154	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273157	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2295103	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295104	0.84[ASN][1000 genomes]
rs2383693	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28384418	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28395170	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28404080	0.91[ASN][1000 genomes]
rs28535942	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28569331	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577270	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28589276	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28618323	0.84[ASN][1000 genomes]
rs28870452	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759548	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809448	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3885855	0.87[ASN][1000 genomes]
rs45531432	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981258	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4982234	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58320987	0.84[ASN][1000 genomes]
rs60152856	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61100068	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61191004	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7141261	0.86[ASN][1000 genomes]
rs7147571	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8020370	0.84[ASN][1000 genomes]
rs8021414	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
14	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35452800-35478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:35453200-35474200	Weak transcription	Aorta	Aorta
3	chr14:35453600-35468800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:35453600-35470600	Weak transcription	Fetal Stomach	stomach
5	chr14:35453600-35474200	Weak transcription	Right Ventricle	heart
6	chr14:35453600-35485600	Weak transcription	HSMMtube	muscle
7	chr14:35453800-35468600	Weak transcription	Colonic Mucosa	Colon
8	chr14:35453800-35472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:35453800-35473600	Weak transcription	Fetal Lung	lung
10	chr14:35453800-35474000	Weak transcription	NHEK	skin
11	chr14:35453800-35476000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:35453800-35499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35454000-35479200	Weak transcription	Gastric	stomach
14	chr14:35454400-35468800	Weak transcription	Left Ventricle	heart
15	chr14:35454400-35471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:35454400-35481600	Weak transcription	HMEC	breast
17	chr14:35454400-35485200	Weak transcription	Esophagus	oesophagus
18	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
19	chr14:35454600-35468800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:35454600-35474000	Weak transcription	Brain Angular Gyrus	brain
21	chr14:35454800-35468400	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:35454800-35468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:35454800-35468800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:35454800-35469200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:35454800-35471600	Weak transcription	Ovary	ovary
26	chr14:35454800-35471800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:35454800-35472000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:35454800-35474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:35454800-35481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:35454800-35483600	Weak transcription	Small Intestine	intestine
31	chr14:35454800-35484800	Weak transcription	Fetal Brain Male	brain
32	chr14:35455000-35468800	Weak transcription	Fetal Heart	heart
33	chr14:35455000-35470600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:35455200-35468800	Weak transcription	HSMM	muscle
35	chr14:35455200-35470600	Weak transcription	NH-A	brain
36	chr14:35455200-35477200	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:35455200-35482800	Weak transcription	A549	lung
38	chr14:35455200-35487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:35455400-35468800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:35455400-35468800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:35455400-35473400	Weak transcription	Fetal Brain Female	brain
42	chr14:35455600-35468600	Weak transcription	NHDF-Ad	bronchial
43	chr14:35455600-35481600	Weak transcription	NHLF	lung
44	chr14:35455800-35473600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:35456400-35472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:35456400-35483400	Weak transcription	Pancreas	Pancrea
47	chr14:35457000-35477200	Weak transcription	Hela-S3	cervix
48	chr14:35459400-35468600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:35459400-35468800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:35459400-35470600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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