Variant report

Variant	rs1618891
Chromosome Location	chr5:43164993-43164994
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	chr5:43162871..43165014-chr5:43168849..43170795,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10064003	0.90[JPT][hapmap]
rs10522	0.90[JPT][hapmap]
rs10941604	0.86[JPT][hapmap]
rs10941605	0.86[JPT][hapmap]
rs12655504	0.80[ASW][hapmap];0.87[CEU][hapmap]
rs12697439	0.90[JPT][hapmap]
rs13169690	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs13170208	0.90[JPT][hapmap]
rs1542369	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs1574407	0.90[JPT][hapmap]
rs160709	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs1624415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628981	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670796	0.87[CEU][hapmap]
rs1690994	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1690997	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178415	0.92[CHD][hapmap];0.90[JPT][hapmap]
rs2100473	0.86[JPT][hapmap]
rs222060	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2329995	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2444779	0.87[CEU][hapmap];0.81[CHB][hapmap];0.80[YRI][hapmap]
rs2453308	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548350	0.81[JPT][hapmap]
rs2548353	0.86[JPT][hapmap]
rs2548356	0.86[JPT][hapmap];0.84[YRI][hapmap]
rs2603656	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs309909	0.86[JPT][hapmap]
rs309914	0.90[JPT][hapmap]
rs309923	0.86[JPT][hapmap]
rs309924	0.85[JPT][hapmap]
rs309925	0.85[JPT][hapmap]
rs309926	0.85[JPT][hapmap]
rs309927	0.86[JPT][hapmap]
rs316404	0.90[CHD][hapmap];0.90[JPT][hapmap]
rs316408	0.90[CHD][hapmap];0.90[JPT][hapmap]
rs316413	0.92[CHD][hapmap];0.90[JPT][hapmap]
rs316414	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs4092293	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs4092294	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs479996	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4866811	0.80[ASW][hapmap];0.87[CEU][hapmap]
rs499436	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511340	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs512040	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512921	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521649	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541143	0.96[YRI][hapmap]
rs544402	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555276	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557076	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567884	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs574051	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57689195	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs579337	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs579363	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61004923	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61121229	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs643307	0.90[JPT][hapmap]
rs6451660	0.90[JPT][hapmap]
rs6451661	0.90[JPT][hapmap]
rs6451662	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs6879130	0.90[JPT][hapmap]
rs6892422	0.86[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724430	0.86[JPT][hapmap]
rs768441	0.90[JPT][hapmap]
rs7715065	0.86[JPT][hapmap]
rs782971	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782972	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782976	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs782977	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs782978	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs782984	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782994	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782996	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs903391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292862	0.82[CHD][hapmap];0.90[JPT][hapmap]

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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1618891	TTLL7	trans	parietal	SCAN
rs1618891	FYB	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
2	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
3	chr5:43127600-43178000	Strong transcription	Dnd41	blood
4	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43148400-43169800	Strong transcription	Hela-S3	cervix
6	chr5:43150600-43167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:43155200-43177200	Weak transcription	Fetal Heart	heart
8	chr5:43155800-43176600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:43156000-43178200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:43156200-43174600	Weak transcription	Right Ventricle	heart
11	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:43156800-43174200	Weak transcription	Gastric	stomach
13	chr5:43156800-43177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:43157000-43173400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:43157000-43178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:43158800-43168400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:43159000-43165400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:43159000-43166000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:43159000-43166000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:43160600-43166400	Strong transcription	Placenta	Placenta
21	chr5:43160600-43166600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:43160800-43170000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:43161000-43165400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:43161000-43165400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:43161000-43168600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:43161000-43170600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:43161200-43165800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:43161200-43168600	Strong transcription	Liver	Liver
29	chr5:43161200-43169000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:43161200-43169600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:43161400-43165000	Strong transcription	Colon Smooth Muscle	Colon
32	chr5:43161400-43165200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr5:43161400-43165600	Strong transcription	Fetal Stomach	stomach
34	chr5:43161400-43166200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:43161400-43166200	Strong transcription	HMEC	breast
36	chr5:43161400-43166400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:43161400-43166600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:43161400-43167000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:43161400-43168600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:43161400-43168800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:43161400-43168800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:43161400-43169000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:43161400-43169000	Strong transcription	Adipose Nuclei	Adipose
44	chr5:43161400-43169200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:43161400-43176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:43161800-43169400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:43161800-43170400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:43162000-43167600	Weak transcription	Aorta	Aorta
49	chr5:43162000-43167800	Weak transcription	Ovary	ovary
50	chr5:43162000-43173000	Weak transcription	H9 Cell Line	embryonic stem cell

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