Variant report

Variant	rs10515568
Chromosome Location	chr5:145667351-145667352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145661955..145664023-chr5:145664235..145668387,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11540216	0.83[EUR][1000 genomes]
rs11952903	1.00[EUR][1000 genomes]
rs11959720	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104247	0.83[EUR][1000 genomes]
rs17104250	0.83[EUR][1000 genomes]
rs17104260	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104264	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104266	0.83[EUR][1000 genomes]
rs17104268	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs17104276	0.83[EUR][1000 genomes]
rs17104293	0.90[EUR][1000 genomes]
rs17104318	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104321	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17104322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104324	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104331	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104347	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104362	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17104371	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104395	0.96[EUR][1000 genomes]
rs2163754	0.96[EUR][1000 genomes]
rs2895652	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4631229	1.00[EUR][1000 genomes]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	1.00[EUR][1000 genomes]
rs57722184	0.93[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58922378	1.00[EUR][1000 genomes]
rs60892265	0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs66507348	0.83[EUR][1000 genomes]
rs66891285	0.83[EUR][1000 genomes]
rs67350755	0.83[EUR][1000 genomes]
rs67721586	0.83[EUR][1000 genomes]
rs67859456	0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6870249	1.00[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6882243	0.86[EUR][1000 genomes]
rs72806113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806144	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806155	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806173	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72806176	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72820451	0.83[EUR][1000 genomes]
rs72822208	0.83[EUR][1000 genomes]
rs72822249	0.83[EUR][1000 genomes]
rs72822252	0.83[EUR][1000 genomes]
rs72822263	0.83[EUR][1000 genomes]
rs72822274	0.83[EUR][1000 genomes]
rs72824110	0.86[EUR][1000 genomes]
rs72824123	0.93[EUR][1000 genomes]
rs72824124	0.93[EUR][1000 genomes]
rs73315720	0.83[EUR][1000 genomes]
rs73317887	0.93[EUR][1000 genomes]
rs73317890	0.93[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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
3	chr5:145623000-145667800	Strong transcription	Dnd41	blood
4	chr5:145628200-145669000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:145630600-145667400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr5:145630800-145668400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:145630800-145669600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:145631000-145668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:145631200-145669000	Strong transcription	Liver	Liver
10	chr5:145633000-145669400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:145641400-145668000	Weak transcription	Gastric	stomach
12	chr5:145641600-145670600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:145642400-145667400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:145649200-145676200	Weak transcription	Fetal Brain Male	brain
15	chr5:145652200-145667800	Weak transcription	Colonic Mucosa	Colon
16	chr5:145652600-145667600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:145652800-145668000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:145652800-145672400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:145653000-145668600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:145653200-145668000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:145654200-145667800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:145655200-145668200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:145655200-145669200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:145655600-145667600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:145656400-145669600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:145657800-145667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:145657800-145676000	Weak transcription	Brain Substantia Nigra	brain
28	chr5:145658800-145667400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:145659600-145667600	Strong transcription	Adipose Nuclei	Adipose
30	chr5:145659600-145668000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:145659600-145668000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:145659800-145669000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:145660000-145668000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:145660000-145668200	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:145660200-145668400	Strong transcription	Placenta	Placenta
36	chr5:145660600-145667400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:145660800-145668000	Weak transcription	Thymus	Thymus
38	chr5:145661400-145668400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:145662000-145667800	Strong transcription	GM12878-XiMat	blood
40	chr5:145662000-145668200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:145662000-145668800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:145662600-145668600	Weak transcription	Fetal Lung	lung
43	chr5:145663200-145667800	Weak transcription	Ovary	ovary
44	chr5:145663200-145668000	Weak transcription	Fetal Stomach	stomach
45	chr5:145663200-145668600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:145663200-145669800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:145663200-145669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:145663200-145669800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:145663200-145671000	Weak transcription	Left Ventricle	heart
50	chr5:145663200-145674400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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