Variant report

Variant	rs73346351
Chromosome Location	chr14:45433854-45433855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45433851-45433984	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr14:45433018-45434396	SK-N-SH	brain:	n/a	n/a
3	SIN3AK20	chr14:45430157-45433877	MCF-7	breast:	n/a	n/a
4	MXI1	chr14:45432644-45434078	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:45432984-45433912	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45432779..45434655-chr14:45476453..45478128,2	MCF-7	breast:
2	chr14:45429603..45434764-chr14:45555039..45559274,5	MCF-7	breast:
3	chr14:45427410..45431483-chr14:45431608..45434596,4	MCF-7	breast:
4	chr14:45428391..45434782-chr14:45601313..45606393,12	MCF-7	breast:
5	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
6	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
7	chr14:45432794..45435904-chr14:45437854..45440378,3	K562	blood:

No data

Variant related genes	Relation type
KLHL28	TF binding region
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000212615	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10083439	0.85[EUR][1000 genomes]
rs10129173	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10131066	0.87[EUR][1000 genomes]
rs10131615	0.89[EUR][1000 genomes]
rs10132389	0.94[EUR][1000 genomes]
rs10132547	0.94[EUR][1000 genomes]
rs10132949	0.92[EUR][1000 genomes]
rs10134071	0.96[EUR][1000 genomes]
rs10134598	0.83[EUR][1000 genomes]
rs10135085	0.81[EUR][1000 genomes]
rs10135890	0.96[EUR][1000 genomes]
rs10136008	0.94[EUR][1000 genomes]
rs10136855	1.00[EUR][1000 genomes]
rs10136926	0.83[EUR][1000 genomes]
rs10138272	0.92[EUR][1000 genomes]
rs10139998	1.00[EUR][1000 genomes]
rs10140013	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10140049	1.00[EUR][1000 genomes]
rs10140108	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10140222	0.96[EUR][1000 genomes]
rs10140318	0.96[EUR][1000 genomes]
rs10145092	0.96[EUR][1000 genomes]
rs10145267	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10146395	0.96[EUR][1000 genomes]
rs10147499	0.96[EUR][1000 genomes]
rs10149484	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150646	0.85[EUR][1000 genomes]
rs10152101	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1053667	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11157423	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11157424	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11844832	0.88[EUR][1000 genomes]
rs11845088	1.00[EUR][1000 genomes]
rs11845904	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11845956	0.96[EUR][1000 genomes]
rs11846656	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847039	0.85[EUR][1000 genomes]
rs11848334	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11848799	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11849208	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11849583	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850363	1.00[EUR][1000 genomes]
rs11851218	0.85[EUR][1000 genomes]
rs11851357	0.85[EUR][1000 genomes]
rs11851516	0.85[EUR][1000 genomes]
rs11851962	0.96[EUR][1000 genomes]
rs11852210	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12100842	0.96[EUR][1000 genomes]
rs1593279	0.85[EUR][1000 genomes]
rs17115639	0.85[EUR][1000 genomes]
rs17115646	0.85[EUR][1000 genomes]
rs17115648	0.85[EUR][1000 genomes]
rs17115652	0.85[EUR][1000 genomes]
rs17115677	0.85[EUR][1000 genomes]
rs17115688	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17115703	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17115718	1.00[EUR][1000 genomes]
rs17115787	0.96[EUR][1000 genomes]
rs2295157	0.85[EUR][1000 genomes]
rs28432035	0.85[EUR][1000 genomes]
rs28448551	0.96[EUR][1000 genomes]
rs28517769	1.00[EUR][1000 genomes]
rs28558522	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28572336	0.96[EUR][1000 genomes]
rs28594810	0.96[EUR][1000 genomes]
rs28622413	0.96[EUR][1000 genomes]
rs28681969	0.96[EUR][1000 genomes]
rs28695721	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28703636	1.00[EUR][1000 genomes]
rs28756151	0.90[EUR][1000 genomes]
rs2899960	1.00[EUR][1000 genomes]
rs3736747	0.83[EUR][1000 genomes]
rs3742591	1.00[ASN][1000 genomes]
rs3825629	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56386358	0.82[EUR][1000 genomes]
rs56706956	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56836063	0.88[EUR][1000 genomes]
rs57129780	0.94[EUR][1000 genomes]
rs57147026	0.81[EUR][1000 genomes]
rs57614513	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57694277	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58013518	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58338525	0.85[EUR][1000 genomes]
rs58920861	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59992752	0.85[EUR][1000 genomes]
rs60521816	0.85[EUR][1000 genomes]
rs60595870	0.84[EUR][1000 genomes]
rs60891427	0.96[EUR][1000 genomes]
rs61707578	0.96[EUR][1000 genomes]
rs6572290	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66488071	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66535982	1.00[EUR][1000 genomes]
rs66662385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67643245	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7140739	0.85[EUR][1000 genomes]
rs7145831	1.00[EUR][1000 genomes]
rs7145870	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146566	0.88[EUR][1000 genomes]
rs7147811	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7151557	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7158846	0.98[EUR][1000 genomes]
rs73334104	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73334112	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73334114	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73334131	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73334135	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334154	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334157	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334162	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334165	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334172	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73334913	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73346336	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73346344	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73346360	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348065	0.92[EUR][1000 genomes]
rs73348069	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348076	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348079	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348088	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348095	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348939	0.85[EUR][1000 genomes]
rs73348947	0.85[EUR][1000 genomes]
rs73348950	0.85[EUR][1000 genomes]
rs73348953	0.85[EUR][1000 genomes]
rs73348959	0.85[EUR][1000 genomes]
rs73348966	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73348975	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73348977	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73348981	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73348987	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73349820	0.88[EUR][1000 genomes]
rs73350201	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352233	0.96[EUR][1000 genomes]
rs73352238	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73353644	0.89[EUR][1000 genomes]
rs73353657	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7493246	1.00[EUR][1000 genomes]
rs7493823	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8006685	0.89[EUR][1000 genomes]
rs8015453	0.96[EUR][1000 genomes]
rs8018380	0.84[EUR][1000 genomes]
rs8022008	1.00[EUR][1000 genomes]
rs8022608	0.96[EUR][1000 genomes]
rs9323106	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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1042585	chr14:45401506-45497907	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
8	nsv1045869	chr14:45415597-45487903	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1259	chr14:45419323-45444660	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428400-45436600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
3	chr14:45429000-45435000	Active TSS	NHLF	lung
4	chr14:45429000-45435200	Active TSS	Fetal Intestine Large	intestine
5	chr14:45429200-45435000	Active TSS	NHDF-Ad	bronchial
6	chr14:45429200-45435200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:45429200-45435200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:45429200-45435400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:45429200-45436800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:45429400-45435000	Active TSS	A549	lung
11	chr14:45429400-45435200	Active TSS	Right Atrium	heart
12	chr14:45429600-45434200	Active TSS	Fetal Muscle Trunk	muscle
13	chr14:45429600-45436200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:45429600-45437000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:45429600-45437400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:45429800-45434200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:45429800-45435400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:45429800-45435400	Active TSS	Right Ventricle	heart
19	chr14:45429800-45436600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr14:45430000-45435000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:45430200-45436000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:45431600-45437200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:45431800-45434000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr14:45431800-45434000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:45431800-45435400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:45432000-45434000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:45432000-45434400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr14:45432000-45434600	Flanking Active TSS	Liver	Liver
29	chr14:45432000-45435400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:45432200-45434200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr14:45432200-45435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:45432200-45435200	Flanking Active TSS	HUVEC	blood vessel
33	chr14:45432200-45435400	Flanking Active TSS	Dnd41	blood
34	chr14:45432400-45434000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:45432400-45434000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr14:45432400-45434400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:45432600-45434000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr14:45432600-45434200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:45432600-45434200	Flanking Active TSS	NHEK	skin
40	chr14:45432800-45434000	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr14:45432800-45434000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:45432800-45435000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:45433000-45434400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:45433000-45435200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:45433000-45435600	Active TSS	Fetal Brain Female	brain
46	chr14:45433000-45437000	Active TSS	Fetal Intestine Small	intestine
47	chr14:45433200-45434200	Active TSS	Colon Smooth Muscle	Colon
48	chr14:45433200-45434600	Active TSS	Fetal Heart	heart
49	chr14:45433200-45435000	Active TSS	Fetal Brain Male	brain
50	chr14:45433200-45435000	Active TSS	HepG2	liver

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