Variant report

Variant	rs1079166
Chromosome Location	chr19:18385214-18385215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
3	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
4	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
5	chr19:18302787..18307396-chr19:18383842..18390051,8	K562	blood:
6	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
7	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
8	chr19:18262015..18264258-chr19:18383927..18386552,2	K562	blood:
9	chr19:18314296..18317431-chr19:18383748..18386421,3	K562	blood:
10	chr19:18314296..18317366-chr19:18383748..18385809,3	K562	blood:
11	chr19:18384527..18386649-chr19:18506859..18509715,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JUND-1	chr19:18385213-18385240	NONHSAT062952
2	lnc-JUND-1	chr19:18385213-18385240	NONHSAT062951

No data

Variant related genes	Relation type
ENSG00000268650	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000130520	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1079165	0.97[ASN][1000 genomes]
rs10854164	0.97[ASN][1000 genomes]
rs12461261	0.93[ASN][1000 genomes]
rs12461701	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12461751	0.97[ASN][1000 genomes]
rs12608843	1.00[LWK][hapmap]
rs1421720	0.90[ASN][1000 genomes]
rs1549143	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17711565	0.86[CHB][hapmap]
rs41347350	0.97[ASN][1000 genomes]
rs41481544	0.92[ASN][1000 genomes]
rs4808125	0.91[ASN][1000 genomes]
rs4808778	0.97[ASN][1000 genomes]
rs57090641	0.97[ASN][1000 genomes]
rs59961449	0.83[ASN][1000 genomes]
rs60086589	0.84[ASN][1000 genomes]
rs60170051	0.97[ASN][1000 genomes]
rs62120437	0.97[ASN][1000 genomes]
rs7247237	0.92[ASN][1000 genomes]
rs7247767	0.94[ASN][1000 genomes]
rs7248070	0.90[ASN][1000 genomes]
rs8103549	0.89[ASN][1000 genomes]
rs8108675	0.86[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
6	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	167 gene(s)	inside rSNPs	diseases
7	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
10	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
12	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
13	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
14	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
15	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
16	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
17	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
18	nsv578744	chr19:18380072-18392873	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
19	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1079166	ISYNA1	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
2	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
3	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:18371000-18385400	Weak transcription	HSMMtube	muscle
6	chr19:18374600-18388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:18375000-18388200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:18375600-18386000	Weak transcription	Fetal Kidney	kidney
9	chr19:18376200-18386400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:18377200-18388800	Weak transcription	Dnd41	blood
11	chr19:18377800-18388800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:18378200-18388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:18378200-18389000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:18378600-18385400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:18378600-18385400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:18379400-18385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:18379400-18385400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:18379400-18385400	Weak transcription	Fetal Lung	lung
19	chr19:18379400-18385400	Weak transcription	Gastric	stomach
20	chr19:18379400-18387600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:18379400-18388800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:18379400-18388800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:18379400-18389000	Weak transcription	Aorta	Aorta
24	chr19:18380200-18386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:18380400-18385400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:18380400-18388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18380400-18388800	Weak transcription	Fetal Brain Female	brain
28	chr19:18383600-18385400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:18383800-18387800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:18384000-18388800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:18384200-18386400	Enhancers	Stomach Mucosa	stomach
32	chr19:18384200-18387200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:18384200-18387200	Genic enhancers	Fetal Intestine Small	intestine
34	chr19:18384200-18387200	Enhancers	Pancreas	Pancrea
35	chr19:18384400-18385400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:18384400-18385400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:18384400-18385400	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:18384400-18385400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr19:18384400-18385400	Strong transcription	Fetal Thymus	thymus
40	chr19:18384400-18385800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:18384400-18386400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr19:18384400-18386600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:18384400-18386800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr19:18384400-18387000	Enhancers	Esophagus	oesophagus
45	chr19:18384400-18387200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr19:18384400-18387400	Genic enhancers	Fetal Muscle Leg	muscle
47	chr19:18384400-18388200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:18384400-18388800	Genic enhancers	Placenta	Placenta
49	chr19:18384400-18389000	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr19:18384600-18385400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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