Variant report

Variant	rs73340622
Chromosome Location	chr14:45582119-45582120
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45557097..45559239-chr14:45581232..45583866,2	MCF-7	breast:
2	chr14:45431175..45432688-chr14:45580490..45582430,2	MCF-7	breast:
3	chr14:45580502..45585141-chr14:45602006..45605366,8	MCF-7	breast:
4	chr14:45580786..45584849-chr14:45600425..45604781,6	MCF-7	breast:
5	chr14:45578752..45580867-chr14:45581192..45583432,2	MCF-7	breast:
6	chr14:45580494..45583675-chr14:45592106..45595517,3	MCF-7	breast:
7	chr14:45430448..45432568-chr14:45582038..45583583,2	MCF-7	breast:
8	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185246	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000249163	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000239043	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000212615	Chromatin interaction
ENSG00000198718	Chromatin interaction

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

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

rs_ID	r²[population]
rs10130368	0.89[EUR][1000 genomes]
rs10130377	0.89[EUR][1000 genomes]
rs10131066	0.87[EUR][1000 genomes]
rs10134071	0.82[EUR][1000 genomes]
rs10134598	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135085	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136008	0.80[EUR][1000 genomes]
rs10138997	0.91[EUR][1000 genomes]
rs10140222	0.82[EUR][1000 genomes]
rs10140318	0.82[EUR][1000 genomes]
rs10141474	0.89[EUR][1000 genomes]
rs10143806	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145092	0.82[EUR][1000 genomes]
rs10146395	0.82[EUR][1000 genomes]
rs10147499	0.82[EUR][1000 genomes]
rs1053667	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11844832	0.89[EUR][1000 genomes]
rs11845956	0.82[EUR][1000 genomes]
rs11847336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849208	0.82[EUR][1000 genomes]
rs12100842	0.82[EUR][1000 genomes]
rs17115787	0.82[EUR][1000 genomes]
rs17115809	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17115811	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2016738	1.00[ASN][1000 genomes]
rs2033385	0.91[EUR][1000 genomes]
rs28370281	0.91[EUR][1000 genomes]
rs28448551	0.82[EUR][1000 genomes]
rs28572336	0.82[EUR][1000 genomes]
rs28594810	0.82[EUR][1000 genomes]
rs28622413	0.82[EUR][1000 genomes]
rs28637857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681969	0.82[EUR][1000 genomes]
rs3783700	1.00[ASN][1000 genomes]
rs3783702	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825625	0.91[EUR][1000 genomes]
rs3825627	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56706956	0.82[EUR][1000 genomes]
rs56836063	0.89[EUR][1000 genomes]
rs57003561	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57602646	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57614513	0.82[EUR][1000 genomes]
rs57694277	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58826926	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59073313	0.85[AFR][1000 genomes]
rs59353994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60891427	0.82[EUR][1000 genomes]
rs61155826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61707578	0.82[EUR][1000 genomes]
rs7146566	0.89[EUR][1000 genomes]
rs72474138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73334913	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73340611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73340626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340630	0.85[AFR][1000 genomes]
rs73340634	0.83[AFR][1000 genomes]
rs73340655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73340659	0.91[EUR][1000 genomes]
rs73348065	0.82[EUR][1000 genomes]
rs73348069	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348076	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348079	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348088	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73348095	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73349820	0.89[EUR][1000 genomes]
rs73349835	0.90[ASN][1000 genomes]
rs73349842	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73349857	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73349858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73349868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73352233	0.82[EUR][1000 genomes]
rs73353657	0.86[AMR][1000 genomes]
rs7493823	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8009193	0.91[EUR][1000 genomes]
rs8015453	0.82[EUR][1000 genomes]
rs8017844	0.91[EUR][1000 genomes]
rs8022499	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022608	0.82[EUR][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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554000-45585400	Weak transcription	Gastric	stomach
2	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
3	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
7	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:45563600-45599600	Strong transcription	Dnd41	blood
11	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
15	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:45564200-45582200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:45564200-45589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:45564400-45582400	Strong transcription	Liver	Liver
26	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
27	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:45564400-45599000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:45564400-45599200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:45564400-45599200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr14:45564400-45599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:45564800-45602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:45566000-45586200	Weak transcription	Pancreas	Pancrea
34	chr14:45568400-45591000	Strong transcription	GM12878-XiMat	blood
35	chr14:45568800-45582600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr14:45569000-45582200	Strong transcription	Fetal Lung	lung
37	chr14:45571200-45587400	Strong transcription	NHDF-Ad	bronchial
38	chr14:45571600-45582600	Strong transcription	HSMM	muscle
39	chr14:45573200-45598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:45573600-45583800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr14:45573800-45602600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:45574000-45583200	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:45575000-45591000	Strong transcription	HMEC	breast
44	chr14:45575000-45593600	Strong transcription	Brain Hippocampus Middle	brain
45	chr14:45575600-45585000	Weak transcription	Right Ventricle	heart
46	chr14:45575800-45582800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:45576600-45593400	Strong transcription	Fetal Brain Female	brain
48	chr14:45576800-45593400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:45577200-45602800	Weak transcription	Aorta	Aorta
50	chr14:45578200-45584200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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