Variant report

Variant	rs17104362
Chromosome Location	chr5:145650597-145650598
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	chr5:145643342..145645989-chr5:145650081..145652639,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10515565	0.87[LWK][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap]
rs10515568	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11540216	0.83[EUR][1000 genomes]
rs11952903	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958136	0.82[YRI][hapmap]
rs11959720	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171939	0.91[LWK][hapmap];0.96[MKK][hapmap]
rs13183976	0.91[LWK][hapmap];0.94[MKK][hapmap]
rs1567057	0.88[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
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];0.96[EUR][1000 genomes]
rs17104321	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104322	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17104324	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17104331	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17104347	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17104371	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104395	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2116749	0.89[YRI][hapmap]
rs2163754	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2895652	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2963915	0.88[LWK][hapmap]
rs2963921	0.85[LWK][hapmap]
rs35947468	0.81[AFR][1000 genomes]
rs4631229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705156	0.86[YRI][hapmap]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57722184	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58922378	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892265	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs62372773	0.82[AFR][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	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.98[EUR][1000 genomes]
rs6867146	0.81[AFR][1000 genomes]
rs6870249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6878005	0.84[LWK][hapmap];0.96[MKK][hapmap]
rs6881180	0.91[LWK][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap]
rs6882243	0.86[EUR][1000 genomes]
rs6884493	0.84[AFR][1000 genomes]
rs72806113	1.00[EUR][1000 genomes]
rs72806116	1.00[EUR][1000 genomes]
rs72806136	1.00[EUR][1000 genomes]
rs72806144	1.00[EUR][1000 genomes]
rs72806155	1.00[EUR][1000 genomes]
rs72806173	0.98[EUR][1000 genomes]
rs72806176	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]
rs7702123	0.80[AFR][1000 genomes]
rs7703269	0.80[AFR][1000 genomes]
rs7722258	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs7724811	0.81[AFR][1000 genomes]
rs7725078	1.00[CEU][hapmap]
rs7728381	0.85[LWK][hapmap]
rs7729098	0.91[LWK][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs9918101	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	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
10	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145593400-145651000	Weak transcription	Stomach Mucosa	stomach
2	chr5:145597000-145668400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:145602600-145653800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:145611200-145670600	Weak transcription	Small Intestine	intestine
5	chr5:145613400-145658800	Weak transcription	Pancreas	Pancrea
6	chr5:145621000-145664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:145623000-145667800	Strong transcription	Dnd41	blood
8	chr5:145624800-145665200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:145628200-145669000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:145628600-145654400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:145630000-145653600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:145630600-145653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:145630600-145667000	Strong transcription	Fetal Thymus	thymus
14	chr5:145630600-145667400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:145630800-145658800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:145630800-145667200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:145630800-145668400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:145630800-145669600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:145631000-145668400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:145631200-145653800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr5:145631200-145654000	Strong transcription	Placenta	Placenta
22	chr5:145631200-145654600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:145631200-145654600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:145631200-145657000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:145631200-145657800	Strong transcription	Adipose Nuclei	Adipose
26	chr5:145631200-145662600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:145631200-145669000	Strong transcription	Liver	Liver
28	chr5:145632800-145653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:145633000-145669400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:145633200-145655200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:145633600-145653400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:145633800-145667200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:145634400-145654000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:145635000-145653200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:145635600-145653200	Strong transcription	Fetal Lung	lung
36	chr5:145636400-145654400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:145638400-145656200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:145639400-145662400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:145639600-145653400	Strong transcription	HSMM	muscle
40	chr5:145639800-145653400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:145640000-145662000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:145640400-145652000	Strong transcription	Hela-S3	cervix
43	chr5:145641400-145651000	Weak transcription	NHLF	lung
44	chr5:145641400-145663000	Weak transcription	Right Ventricle	heart
45	chr5:145641400-145668000	Weak transcription	Gastric	stomach
46	chr5:145641600-145658800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:145641600-145670600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:145641800-145658400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:145642400-145659800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:145642400-145667400	Weak transcription	Brain Angular Gyrus	brain

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