Variant report

Variant	rs4551925
Chromosome Location	chr13:53273634-53273635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LECT1-1	chr13:53268955-53274883	ENSG00000248190

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11148262	1.00[YRI][hapmap]
rs1370081	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1436724	1.00[YRI][hapmap]
rs1436728	1.00[YRI][hapmap]
rs1898282	1.00[EUR][1000 genomes]
rs2118093	1.00[YRI][hapmap]
rs2408657	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2760779	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs342771	1.00[EUR][1000 genomes]
rs342775	1.00[EUR][1000 genomes]
rs342776	1.00[EUR][1000 genomes]
rs3989920	1.00[YRI][hapmap]
rs4242994	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242995	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242997	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4338683	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4477578	1.00[EUR][1000 genomes]
rs4539485	1.00[YRI][hapmap]
rs4542538	1.00[YRI][hapmap]
rs4884223	1.00[YRI][hapmap]
rs4884247	1.00[AFR][1000 genomes]
rs4884249	1.00[AFR][1000 genomes]
rs4885887	1.00[YRI][hapmap]
rs4885910	1.00[YRI][hapmap]
rs602525	1.00[EUR][1000 genomes]
rs619222	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs630892	1.00[YRI][hapmap]
rs6420307	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6561673	1.00[YRI][hapmap]
rs6561676	1.00[YRI][hapmap]
rs6561677	1.00[YRI][hapmap]
rs6561680	1.00[EUR][1000 genomes]
rs6561681	1.00[EUR][1000 genomes]
rs6561685	1.00[YRI][hapmap]
rs6561686	1.00[YRI][hapmap]
rs676306	1.00[YRI][hapmap]
rs694014	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7324108	1.00[EUR][1000 genomes]
rs7329993	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7330193	1.00[YRI][hapmap]
rs7330361	1.00[YRI][hapmap]
rs7335091	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7335270	1.00[YRI][hapmap]
rs7338913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7982106	1.00[EUR][1000 genomes]
rs7984073	0.94[AFR][1000 genomes]
rs7992760	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7994615	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7996692	1.00[YRI][hapmap]
rs7999466	1.00[YRI][hapmap]
rs893069	1.00[AFR][1000 genomes]
rs9316581	1.00[YRI][hapmap]
rs9316584	1.00[EUR][1000 genomes]
rs9526970	1.00[YRI][hapmap]
rs9526978	1.00[YRI][hapmap]
rs9526980	1.00[EUR][1000 genomes]
rs9536222	1.00[YRI][hapmap]
rs9536228	1.00[YRI][hapmap]
rs9536235	1.00[YRI][hapmap]
rs9536241	1.00[YRI][hapmap]
rs9536244	1.00[YRI][hapmap]
rs9536250	1.00[YRI][hapmap]
rs971513	1.00[YRI][hapmap]
rs973198	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv900088	chr13:53250839-53274936	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1833952	chr13:53262175-53274936	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:53230800-53277400	Weak transcription	Gastric	stomach
3	chr13:53235200-53276000	Weak transcription	Right Ventricle	heart
4	chr13:53240600-53275800	Weak transcription	K562	blood
5	chr13:53242800-53278600	Weak transcription	Psoas Muscle	Psoas
6	chr13:53254200-53275800	Weak transcription	Fetal Heart	heart
7	chr13:53255800-53273800	Weak transcription	A549	lung
8	chr13:53255800-53277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
11	chr13:53260000-53277600	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:53260200-53277600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:53260400-53273800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:53260400-53279200	Weak transcription	Aorta	Aorta
15	chr13:53260600-53275400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr13:53260600-53275800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:53260800-53274200	Weak transcription	Thymus	Thymus
18	chr13:53260800-53274800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:53260800-53275200	Weak transcription	Ovary	ovary
20	chr13:53260800-53276000	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:53260800-53280400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:53260800-53297000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:53261000-53285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:53262200-53276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:53262400-53274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:53262400-53276600	Weak transcription	Placenta	Placenta
27	chr13:53262400-53276800	Weak transcription	NH-A	brain
28	chr13:53262600-53285600	Weak transcription	HMEC	breast
29	chr13:53262800-53275200	Weak transcription	Fetal Thymus	thymus
30	chr13:53262800-53275600	Weak transcription	Primary T cells from cord blood	blood
31	chr13:53262800-53277800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:53263000-53275000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:53263000-53281800	Weak transcription	Fetal Brain Male	brain
34	chr13:53263400-53274600	Weak transcription	Primary B cells from cord blood	blood
35	chr13:53263400-53275000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:53263400-53275200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:53263400-53275600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:53263400-53276800	Weak transcription	HSMMtube	muscle
39	chr13:53263400-53277200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr13:53263400-53277800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:53263400-53278200	Weak transcription	Fetal Lung	lung
42	chr13:53263400-53285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:53263600-53275400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:53264000-53275400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:53264400-53274400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:53265000-53275800	Weak transcription	HUVEC	blood vessel
47	chr13:53265200-53274000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:53265200-53277600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr13:53266000-53274600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:53266400-53274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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