Variant report

Variant	rs57602646
Chromosome Location	chr14:45571085-45571086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

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];0.87[ASN][1000 genomes]
rs10135085	0.96[EUR][1000 genomes];0.89[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];0.89[ASN][1000 genomes]
rs10145092	0.82[EUR][1000 genomes]
rs10146395	0.82[EUR][1000 genomes]
rs10147499	0.82[EUR][1000 genomes]
rs1053667	0.80[EUR][1000 genomes]
rs11844832	0.89[EUR][1000 genomes]
rs11845956	0.82[EUR][1000 genomes]
rs11847336	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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];0.89[ASN][1000 genomes]
rs17115811	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016738	0.87[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];0.87[ASN][1000 genomes]
rs28681969	0.82[EUR][1000 genomes]
rs3783700	0.87[ASN][1000 genomes]
rs3783702	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825625	0.91[EUR][1000 genomes]
rs3825627	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825628	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56706956	0.82[EUR][1000 genomes]
rs56836063	0.89[EUR][1000 genomes]
rs57003561	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57614513	0.82[EUR][1000 genomes]
rs57694277	0.82[EUR][1000 genomes]
rs58826926	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59353994	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60891427	0.82[EUR][1000 genomes]
rs61155826	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61707578	0.82[EUR][1000 genomes]
rs7146566	0.89[EUR][1000 genomes]
rs72474138	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73334913	0.82[EUR][1000 genomes]
rs73340611	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73340622	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73340626	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73340655	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73340659	0.91[EUR][1000 genomes]
rs73348065	0.82[EUR][1000 genomes]
rs73348069	0.82[EUR][1000 genomes]
rs73348076	0.82[EUR][1000 genomes]
rs73348079	0.82[EUR][1000 genomes]
rs73348088	0.82[EUR][1000 genomes]
rs73348095	0.82[EUR][1000 genomes]
rs73349820	0.89[EUR][1000 genomes]
rs73349835	0.89[ASN][1000 genomes]
rs73349842	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73349853	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73349857	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73349858	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73349868	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73352233	0.82[EUR][1000 genomes]
rs7493823	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];0.86[ASN][1000 genomes]
rs8022608	0.82[EUR][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45554000-45585400	Weak transcription	Gastric	stomach
2	chr14:45554400-45578800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45554400-45585400	Weak transcription	Esophagus	oesophagus
4	chr14:45554600-45576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:45554600-45602600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:45555000-45577000	Weak transcription	Aorta	Aorta
7	chr14:45555000-45586200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:45555200-45579000	Weak transcription	Stomach Mucosa	stomach
9	chr14:45555400-45574600	Weak transcription	Ovary	ovary
10	chr14:45555800-45573600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:45556200-45573800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:45556400-45582000	Weak transcription	Fetal Brain Male	brain
13	chr14:45557400-45602200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:45558000-45571800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:45559000-45591800	Weak transcription	Small Intestine	intestine
16	chr14:45560200-45582000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:45560200-45599800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:45562000-45599200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:45563400-45579200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:45563400-45598600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:45563600-45578400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:45563600-45579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:45563600-45580400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:45563600-45599600	Strong transcription	Dnd41	blood
25	chr14:45563800-45601600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:45564000-45574000	Strong transcription	Primary B cells from cord blood	blood
27	chr14:45564000-45592800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:45564000-45595000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:45564000-45596200	Strong transcription	Placenta	Placenta
30	chr14:45564000-45599200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:45564000-45599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:45564000-45600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:45564200-45581200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:45564200-45582200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:45564200-45589200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:45564200-45593400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:45564200-45599200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:45564200-45599200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr14:45564200-45599200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:45564200-45601600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:45564400-45572200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:45564400-45572800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:45564400-45573600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr14:45564400-45574400	Strong transcription	HepG2	liver
45	chr14:45564400-45579200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:45564400-45581000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr14:45564400-45582000	Strong transcription	Osteobl	bone
48	chr14:45564400-45582400	Strong transcription	Liver	Liver
49	chr14:45564400-45593400	Strong transcription	Adipose Nuclei	Adipose
50	chr14:45564400-45598400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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