Variant report

Variant	rs73240720
Chromosome Location	chr14:35794313-35794314
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35787443..35789912-chr14:35792627..35795777,3	MCF-7	breast:
2	chr14:35793722..35795928-chr14:35804588..35807090,2	K562	blood:
3	chr14:35342747..35344772-chr14:35793971..35796787,2	MCF-7	breast:
4	chr14:35792939..35797188-chr14:35798673..35803214,8	MCF-7	breast:
5	chr14:35793989..35796174-chr14:35872173..35874060,2	K562	blood:
6	chr14:35786509..35789581-chr14:35793946..35797059,3	K562	blood:
7	chr14:35792975..35797440-chr14:35798201..35801252,6	MCF-7	breast:
8	chr14:35793226..35795489-chr14:35872173..35875062,2	K562	blood:
9	chr14:35793707..35796135-chr14:35808509..35811220,2	MCF-7	breast:
10	chr14:35792762..35795033-chr14:35804615..35806413,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10047949	0.96[ASN][1000 genomes]
rs10131625	0.96[ASN][1000 genomes]
rs10132920	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10134308	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10136978	0.96[ASN][1000 genomes]
rs10137019	0.96[ASN][1000 genomes]
rs10142846	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144857	0.96[ASN][1000 genomes]
rs10146133	0.81[ASN][1000 genomes]
rs10146691	0.92[ASN][1000 genomes]
rs10147645	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10149823	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1064248	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11156874	0.81[ASN][1000 genomes]
rs11844031	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845183	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845364	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848309	0.81[ASN][1000 genomes]
rs11849461	1.00[ASN][1000 genomes]
rs11851820	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852178	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100582	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12100980	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12436351	1.00[ASN][1000 genomes]
rs17091807	0.88[ASN][1000 genomes]
rs17103111	0.89[ASN][1000 genomes]
rs17103147	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103166	0.92[ASN][1000 genomes]
rs17386684	0.81[ASN][1000 genomes]
rs17456067	0.81[ASN][1000 genomes]
rs1807162	0.81[ASN][1000 genomes]
rs1884715	0.93[ASN][1000 genomes]
rs2145622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277459	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277461	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415278	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415284	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28470932	0.96[ASN][1000 genomes]
rs28504476	0.93[ASN][1000 genomes]
rs28505171	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28595436	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28665705	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28708376	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28736779	0.96[ASN][1000 genomes]
rs2899832	0.96[ASN][1000 genomes]
rs34509212	0.81[ASN][1000 genomes]
rs4494460	0.81[ASN][1000 genomes]
rs55907319	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58064181	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60940685	0.92[ASN][1000 genomes]
rs62625039	0.81[ASN][1000 genomes]
rs6571694	0.81[ASN][1000 genomes]
rs6571695	0.81[ASN][1000 genomes]
rs6571709	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148424	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7149602	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153807	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154637	0.96[ASN][1000 genomes]
rs7155335	0.96[ASN][1000 genomes]
rs7218	0.96[ASN][1000 genomes]
rs72664840	0.81[ASN][1000 genomes]
rs72664843	0.81[ASN][1000 genomes]
rs72664854	0.81[ASN][1000 genomes]
rs72664855	0.81[ASN][1000 genomes]
rs73239026	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73239030	0.93[ASN][1000 genomes]
rs73239072	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239074	0.96[ASN][1000 genomes]
rs73240721	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74043875	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743226	0.96[ASN][1000 genomes]
rs743227	0.96[ASN][1000 genomes]
rs7493705	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8004236	0.96[ASN][1000 genomes]
rs8005261	1.00[ASN][1000 genomes]
rs8007822	0.96[ASN][1000 genomes]
rs8009666	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010905	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011195	0.81[ASN][1000 genomes]
rs8016140	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8019709	0.81[ASN][1000 genomes]
rs876996	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9646144	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35778400-35799800	Weak transcription	Stomach Mucosa	stomach
3	chr14:35782600-35795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:35783400-35800600	Weak transcription	NHEK	skin
5	chr14:35784800-35804600	Weak transcription	Ovary	ovary
6	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
7	chr14:35785400-35800800	Weak transcription	K562	blood
8	chr14:35787400-35800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:35787600-35795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:35787600-35800800	Weak transcription	Colonic Mucosa	Colon
11	chr14:35787600-35800800	Weak transcription	Esophagus	oesophagus
12	chr14:35787600-35803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35787800-35796200	Weak transcription	Gastric	stomach
14	chr14:35788000-35804600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:35788200-35794400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:35788200-35794400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:35788200-35794400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr14:35788200-35800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:35788200-35800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:35788200-35801200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:35788200-35802200	Weak transcription	NHDF-Ad	bronchial
22	chr14:35788400-35795400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:35788400-35796400	Weak transcription	A549	lung
24	chr14:35788400-35800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:35788400-35800800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:35788400-35800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:35788400-35800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:35788400-35800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:35788400-35800800	Weak transcription	Fetal Lung	lung
30	chr14:35788400-35800800	Weak transcription	GM12878-XiMat	blood
31	chr14:35788400-35801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:35788400-35802200	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:35788600-35801200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:35788600-35805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:35788800-35801000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:35789000-35795400	Weak transcription	Liver	Liver
37	chr14:35789000-35797800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:35789000-35799000	Weak transcription	HepG2	liver
39	chr14:35789000-35800600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:35789000-35800600	Weak transcription	Fetal Intestine Large	intestine
41	chr14:35789000-35800800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:35789000-35800800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:35789000-35800800	Weak transcription	Left Ventricle	heart
44	chr14:35789000-35801000	Weak transcription	Adipose Nuclei	Adipose
45	chr14:35789000-35801200	Weak transcription	Primary B cells from cord blood	blood
46	chr14:35789000-35801600	Weak transcription	Primary T cells from cord blood	blood
47	chr14:35789000-35802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:35789000-35802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:35789000-35804600	Weak transcription	Brain Anterior Caudate	brain
50	chr14:35789200-35800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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