Variant report

Variant	rs73239081
Chromosome Location	chr14:35754929-35754930
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35753115..35758805-chr14:35759547..35762790,7	MCF-7	breast:
2	chr14:35753303..35755635-chr14:35756425..35758168,2	MCF-7	breast:
3	chr14:35750852..35757164-chr14:35871890..35876148,8	MCF-7	breast:
4	chr14:35749937..35752594-chr14:35754898..35756875,2	MCF-7	breast:
5	chr14:35749143..35751383-chr14:35753309..35755474,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10132920	0.86[EUR][1000 genomes]
rs10142846	0.86[EUR][1000 genomes]
rs10149823	0.86[EUR][1000 genomes]
rs1040839	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10498331	1.00[ASN][1000 genomes]
rs11844096	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844257	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846137	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846194	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846536	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847511	1.00[ASN][1000 genomes]
rs11847515	1.00[ASN][1000 genomes]
rs11847715	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848312	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848506	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848999	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849210	0.84[AMR][1000 genomes]
rs12100980	0.86[EUR][1000 genomes]
rs12431902	1.00[ASN][1000 genomes]
rs12434128	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435977	1.00[ASN][1000 genomes]
rs12436274	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436663	1.00[ASN][1000 genomes]
rs12436672	1.00[ASN][1000 genomes]
rs12437331	1.00[ASN][1000 genomes]
rs17103147	0.86[EUR][1000 genomes]
rs17103184	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277459	0.83[EUR][1000 genomes]
rs2415270	1.00[ASN][1000 genomes]
rs2415271	1.00[ASN][1000 genomes]
rs2415272	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415278	0.86[EUR][1000 genomes]
rs28505171	0.83[EUR][1000 genomes]
rs34384582	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35239200	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981269	1.00[ASN][1000 genomes]
rs4981271	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982245	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55758852	1.00[ASN][1000 genomes]
rs55911753	1.00[ASN][1000 genomes]
rs56658608	1.00[ASN][1000 genomes]
rs56994597	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275448	1.00[ASN][1000 genomes]
rs59482644	1.00[ASN][1000 genomes]
rs60871552	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571697	1.00[ASN][1000 genomes]
rs6571709	0.86[EUR][1000 genomes]
rs7140254	1.00[ASN][1000 genomes]
rs7141714	1.00[ASN][1000 genomes]
rs7141992	1.00[ASN][1000 genomes]
rs7142246	1.00[ASN][1000 genomes]
rs7144806	1.00[ASN][1000 genomes]
rs7144845	1.00[ASN][1000 genomes]
rs7149841	1.00[ASN][1000 genomes]
rs7150725	1.00[ASN][1000 genomes]
rs7151250	1.00[ASN][1000 genomes]
rs73234501	1.00[ASN][1000 genomes]
rs73236907	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236912	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236913	1.00[ASN][1000 genomes]
rs73236918	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236919	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236938	1.00[ASN][1000 genomes]
rs73236939	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236946	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236950	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236968	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236982	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236983	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236995	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239016	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239022	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239072	0.86[EUR][1000 genomes]
rs73239096	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043851	1.00[ASN][1000 genomes]
rs7492529	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009666	0.86[EUR][1000 genomes]
rs876996	0.86[EUR][1000 genomes]
rs9743524	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
7	nsv1038396	chr14:35714499-35788189	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1045288	chr14:35735886-35788189	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35684600-35760800	Weak transcription	HSMM	muscle
2	chr14:35706800-35760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:35716800-35760600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:35716800-35761000	Weak transcription	Spleen	Spleen
5	chr14:35717000-35760800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:35722000-35760800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:35724200-35756400	Weak transcription	Left Ventricle	heart
8	chr14:35727200-35756400	Weak transcription	Stomach Mucosa	stomach
9	chr14:35727200-35761000	Weak transcription	NHLF	lung
10	chr14:35728400-35755000	Weak transcription	Colonic Mucosa	Colon
11	chr14:35730200-35760600	Weak transcription	Fetal Brain Female	brain
12	chr14:35731800-35756000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:35734400-35760600	Weak transcription	Right Ventricle	heart
14	chr14:35734400-35760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:35736000-35760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:35737400-35761000	Weak transcription	Gastric	stomach
17	chr14:35738800-35759400	Weak transcription	Placenta	Placenta
18	chr14:35740000-35756600	Weak transcription	NHEK	skin
19	chr14:35741200-35760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:35742800-35755800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:35743200-35756400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:35743400-35760800	Weak transcription	HMEC	breast
23	chr14:35743600-35760800	Weak transcription	Brain Anterior Caudate	brain
24	chr14:35743800-35760800	Weak transcription	Osteobl	bone
25	chr14:35744000-35756200	Weak transcription	Liver	Liver
26	chr14:35744000-35757600	Weak transcription	Lung	lung
27	chr14:35744000-35760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:35744000-35760800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:35744000-35760800	Weak transcription	Brain Substantia Nigra	brain
30	chr14:35744000-35760800	Weak transcription	Fetal Lung	lung
31	chr14:35744000-35760800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:35744000-35761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:35744400-35756200	Weak transcription	Fetal Intestine Large	intestine
34	chr14:35744400-35760800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:35744800-35760800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:35745000-35756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:35745200-35760600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:35745200-35760800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:35745400-35760800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:35745600-35760800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:35745800-35760400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:35745800-35760800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:35746000-35755400	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:35746000-35760800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:35746000-35760800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:35746000-35760800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:35746000-35760800	Weak transcription	A549	lung
48	chr14:35746000-35761000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:35746200-35755200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:35746200-35760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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