Variant report

Variant	rs958305
Chromosome Location	chr19:38189440-38189441
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	chr19:38134173..38137861-chr19:38186479..38189500,3	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10048511	0.80[EUR][1000 genomes]
rs10402671	0.92[EUR][1000 genomes]
rs10403173	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs10404031	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs10406379	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs10408619	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs10409605	0.93[EUR][1000 genomes]
rs10410588	0.85[EUR][1000 genomes]
rs10412510	0.86[EUR][1000 genomes]
rs10412786	0.85[EUR][1000 genomes]
rs10417576	0.93[EUR][1000 genomes]
rs10420268	0.86[EUR][1000 genomes]
rs10420552	0.86[EUR][1000 genomes]
rs10420746	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs10425795	0.85[EUR][1000 genomes]
rs11083432	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1119229	0.88[CEU][hapmap]
rs11673023	0.90[EUR][1000 genomes]
rs1291	1.00[CEU][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12974225	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12979640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13744	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs1531549	0.92[EUR][1000 genomes]
rs1564206	0.85[EUR][1000 genomes]
rs1564208	1.00[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs16958861	0.93[CEU][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes]
rs16958863	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs171376	0.81[EUR][1000 genomes]
rs1974714	0.88[EUR][1000 genomes]
rs1975937	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes]
rs1975939	0.86[EUR][1000 genomes]
rs2075281	1.00[CEU][hapmap]
rs2075284	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287229	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291002	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs241932	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs241933	0.80[EUR][1000 genomes]
rs241950	0.81[EUR][1000 genomes]
rs28512414	0.86[EUR][1000 genomes]
rs2909088	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap]
rs2909093	0.94[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]
rs2909098	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2909100	0.93[EUR][1000 genomes]
rs2909102	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2909105	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2909109	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap]
rs2927739	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs2927740	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2927742	0.85[EUR][1000 genomes]
rs2927746	0.94[EUR][1000 genomes]
rs2927747	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2972430	0.95[EUR][1000 genomes]
rs2972434	0.95[EUR][1000 genomes]
rs2972437	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2972438	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2972439	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2972445	0.90[EUR][1000 genomes]
rs2972446	0.94[EUR][1000 genomes]
rs2972447	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs2972448	0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap]
rs2972458	0.94[EUR][1000 genomes]
rs3095726	0.93[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs3101746	0.90[EUR][1000 genomes]
rs3101747	0.93[EUR][1000 genomes]
rs3112434	0.96[EUR][1000 genomes]
rs35863684	0.92[EUR][1000 genomes]
rs3829688	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs4802024	1.00[CEU][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs4802029	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs4803215	0.85[EUR][1000 genomes]
rs4803231	0.86[EUR][1000 genomes]
rs4803233	0.85[EUR][1000 genomes]
rs4803262	1.00[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs4803263	0.85[EUR][1000 genomes]
rs4803276	0.86[EUR][1000 genomes]
rs4803287	0.86[EUR][1000 genomes]
rs4803524	1.00[CEU][hapmap];0.88[GIH][hapmap];0.96[TSI][hapmap]
rs56151076	0.91[AFR][1000 genomes]
rs56317671	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62108337	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6508736	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs7246461	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8100646	0.82[EUR][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.96[TSI][hapmap]
rs8103633	0.88[EUR][1000 genomes]
rs8103647	0.92[EUR][1000 genomes]
rs8110865	0.86[EUR][1000 genomes]
rs8112706	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs856300	0.94[CEU][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs856304	1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs9304568	0.86[EUR][1000 genomes]
rs954504	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs968073	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9749368	0.94[EUR][1000 genomes]
rs9797618	0.85[EUR][1000 genomes]
rs9941475	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs958305	DMPK	cis	parietal	SCAN
rs958305	CBLC	cis	parietal	SCAN
rs958305	PAFAH1B3	cis	cerebellum	SCAN
rs958305	PHLDB3	cis	cerebellum	SCAN
rs958305	HIPK4	cis	cerebellum	SCAN
rs958305	PHLDB3	cis	parietal	SCAN
rs958305	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
3	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
4	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
5	chr19:38184400-38208800	Weak transcription	HepG2	liver
6	chr19:38186400-38191200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:38186800-38189800	Strong transcription	Fetal Stomach	stomach
8	chr19:38186800-38191200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:38187000-38207800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:38187000-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:38187200-38190800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:38187200-38191600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:38187400-38189800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:38187400-38190400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:38187400-38190600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:38187400-38190600	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr19:38187400-38190600	Strong transcription	Fetal Brain Female	brain
18	chr19:38187400-38190800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:38187400-38190800	Strong transcription	Brain Angular Gyrus	brain
20	chr19:38187400-38190800	Strong transcription	Brain Germinal Matrix	brain
21	chr19:38187400-38190800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:38187400-38190800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:38187400-38190800	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr19:38187400-38190800	ZNF genes & repeats	HSMM	muscle
25	chr19:38187400-38190800	ZNF genes & repeats	NHLF	lung
26	chr19:38187400-38191000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:38187400-38191000	Strong transcription	Brain Anterior Caudate	brain
28	chr19:38187400-38191000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:38187400-38191200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:38187400-38191400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:38187400-38191400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:38187400-38191400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr19:38187400-38191400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr19:38187400-38191600	ZNF genes & repeats	Liver	Liver
35	chr19:38187400-38191600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:38187400-38191800	Strong transcription	Fetal Lung	lung
37	chr19:38187400-38192600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr19:38187400-38192600	Strong transcription	Left Ventricle	heart
39	chr19:38187400-38192800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:38187400-38192800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38187400-38199000	ZNF genes & repeats	A549	lung
42	chr19:38187400-38205800	Strong transcription	Dnd41	blood
43	chr19:38187400-38208000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:38187600-38191200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:38187600-38191200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr19:38187600-38191600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:38187600-38191800	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:38187600-38192800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:38187800-38189800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:38187800-38190400	Strong transcription	Rectal Mucosa Donor 29	rectum

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