Variant report

Variant	rs11668006
Chromosome Location	chr19:40841880-40841881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11666690	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11666860	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11667443	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11667768	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11667774	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668520	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11669006	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11669332	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11670323	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670860	0.82[JPT][hapmap]
rs11671439	0.88[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2356230	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35090721	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3730259	1.00[CHB][hapmap]
rs3760636	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs45441197	0.87[ASN][1000 genomes]
rs45497695	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803329	1.00[CHD][hapmap]
rs56672337	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59058760	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59106111	0.85[EUR][1000 genomes]
rs6508937	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66623822	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67587726	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7245751	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247515	0.88[CEU][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes]
rs7249819	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252506	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73933232	0.80[EUR][1000 genomes]
rs73933236	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73933237	0.87[EUR][1000 genomes]
rs73933238	0.85[EUR][1000 genomes]
rs73933240	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73933241	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8105478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873143	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs874269	0.88[CEU][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11668006	HSD17B14	cis	parietal	SCAN
rs11668006	C19orf47	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
6	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr19:40823400-40842400	Strong transcription	Fetal Brain Female	brain
12	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
13	chr19:40824000-40842200	Strong transcription	Liver	Liver
14	chr19:40824000-40842400	Strong transcription	Brain Germinal Matrix	brain
15	chr19:40824000-40842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:40824400-40843000	Strong transcription	Fetal Thymus	thymus
20	chr19:40825200-40842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:40825400-40842600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:40825600-40842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:40825600-40842400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:40825800-40842200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:40825800-40842200	Strong transcription	Adipose Nuclei	Adipose
26	chr19:40825800-40842400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:40825800-40842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:40825800-40842400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:40825800-40842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:40825800-40842600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:40826000-40842200	Strong transcription	Gastric	stomach
33	chr19:40826000-40842400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:40826000-40842400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:40826000-40842400	Strong transcription	Fetal Intestine Large	intestine
36	chr19:40826000-40842400	Strong transcription	Left Ventricle	heart
37	chr19:40826000-40842400	Strong transcription	Ovary	ovary
38	chr19:40826400-40842200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:40826400-40842400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:40826400-40843000	Strong transcription	Primary T cells from cord blood	blood
41	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
42	chr19:40826600-40842000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:40826600-40842400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:40826600-40842800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:40826800-40842200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:40826800-40842400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:40826800-40842800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:40827600-40845000	Strong transcription	GM12878-XiMat	blood
50	chr19:40829000-40842200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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