Variant report

Variant	rs347818
Chromosome Location	chr15:34563598-34563599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34561845..34564455-chr15:34565020..34567882,2	K562	blood:
2	chr15:34553058..34555521-chr15:34561938..34565007,3	K562	blood:
3	chr15:34558780..34560972-chr15:34563410..34565603,2	K562	blood:

Variant related genes	Relation type
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs104017	0.82[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs1045204	0.92[CHD][hapmap]
rs10851964	0.95[GIH][hapmap]
rs11631094	0.94[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12591967	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs12592443	0.89[ASN][1000 genomes]
rs12594569	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12595504	0.92[CHD][hapmap]
rs168335	0.82[ASN][1000 genomes]
rs16958910	0.87[ASN][1000 genomes]
rs16958954	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs16958989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16958995	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs16959012	0.81[CHB][hapmap]
rs16959021	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs180886	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs2085966	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2126420	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2126421	0.87[ASN][1000 genomes]
rs2244040	0.95[GIH][hapmap]
rs2644243	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2644245	0.83[ASN][1000 genomes]
rs2644247	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs2644248	0.91[ASN][1000 genomes]
rs2705343	0.83[CHD][hapmap]
rs2705348	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs347805	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs347806	0.81[ASN][1000 genomes]
rs347807	0.81[ASN][1000 genomes]
rs347809	0.91[ASN][1000 genomes]
rs347810	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs347812	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs347813	0.93[ASN][1000 genomes]
rs347817	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs347819	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs347822	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs347823	0.91[ASN][1000 genomes]
rs347824	0.96[ASN][1000 genomes]
rs347827	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs347830	0.82[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs347834	0.82[CHB][hapmap]
rs347835	0.86[ASN][1000 genomes]
rs347836	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs347842	0.88[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.85[ASN][1000 genomes]
rs347843	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs347845	0.85[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.87[YRI][hapmap];0.95[ASN][1000 genomes]
rs347846	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]
rs347847	0.82[ASN][1000 genomes]
rs347848	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs347849	0.88[CHB][hapmap];0.97[CHD][hapmap];0.94[MEX][hapmap];0.82[ASN][1000 genomes]
rs347851	0.82[CEU][hapmap];0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs347856	0.95[ASN][1000 genomes]
rs347858	0.86[ASN][1000 genomes]
rs347860	0.92[ASN][1000 genomes]
rs347861	0.93[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.82[YRI][hapmap];0.90[ASN][1000 genomes]
rs347866	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs347867	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs383029	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs405080	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs419179	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs426634	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs436552	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387570	0.94[ASN][1000 genomes]
rs440025	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs442006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs449053	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4530104	0.95[GIH][hapmap]
rs4780233	0.95[GIH][hapmap]
rs56207527	0.80[ASN][1000 genomes]
rs56388838	0.82[ASN][1000 genomes]
rs57715165	0.83[ASN][1000 genomes]
rs57875866	0.86[ASN][1000 genomes]
rs59802332	0.82[ASN][1000 genomes]
rs60114685	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs60539207	0.86[ASN][1000 genomes]
rs6495660	0.88[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6495662	0.81[CHB][hapmap];0.92[CHD][hapmap]
rs7163919	0.86[ASN][1000 genomes]
rs7164902	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.90[ASN][1000 genomes]
rs7166043	0.86[ASN][1000 genomes]
rs7175028	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs7176426	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7181260	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs7183269	0.89[ASN][1000 genomes]
rs73374434	0.83[ASN][1000 genomes]
rs73390084	0.86[ASN][1000 genomes]
rs73392004	0.86[ASN][1000 genomes]
rs7495538	0.84[ASN][1000 genomes]
rs756086	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs8023583	0.82[CHB][hapmap]
rs8025057	0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs8028600	0.86[JPT][hapmap]
rs8031145	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs8031147	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs8031404	0.92[CHD][hapmap]
rs8032347	0.92[CHD][hapmap]
rs8035954	0.95[GIH][hapmap]
rs8038177	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8043005	0.83[ASN][1000 genomes]
rs924065	0.81[CHB][hapmap]
rs9630418	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs347818	SLC12A6	cis	Thyroid	GTEx
rs347818	NOP10	cis	Thyroid	GTEx
rs347818	KATNBL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34533000-34564000	Weak transcription	NHLF	lung
3	chr15:34543000-34568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:34546800-34567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:34546800-34568000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:34546800-34569400	Weak transcription	Ovary	ovary
7	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
9	chr15:34547400-34564200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
11	chr15:34548200-34563800	Weak transcription	Osteobl	bone
12	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:34548600-34565400	Weak transcription	Fetal Intestine Large	intestine
14	chr15:34549200-34563600	Weak transcription	Brain Hippocampus Middle	brain
15	chr15:34549200-34567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
17	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:34551000-34565600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:34551000-34567400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:34551200-34565600	Weak transcription	Liver	Liver
21	chr15:34551200-34567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:34551200-34569400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:34552200-34566000	Weak transcription	Adipose Nuclei	Adipose
27	chr15:34552200-34566000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:34552200-34567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:34552200-34570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:34553600-34567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:34555200-34563600	Weak transcription	Fetal Heart	heart
32	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
34	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
35	chr15:34555600-34564200	Weak transcription	Primary T cells from cord blood	blood
36	chr15:34555600-34565800	Weak transcription	Fetal Intestine Small	intestine
37	chr15:34559000-34563600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:34559800-34567400	Weak transcription	A549	lung
39	chr15:34560200-34568000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:34560800-34563800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:34561000-34563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:34561000-34564200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:34561600-34565200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:34561600-34565200	Strong transcription	GM12878-XiMat	blood
45	chr15:34561600-34565600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:34562200-34563800	Weak transcription	NHDF-Ad	bronchial
47	chr15:34562200-34565200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:34562600-34563800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:34562600-34566200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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