Variant report

Variant	rs7256319
Chromosome Location	chr19:18704528-18704529
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18704422..18706630-chr19:18794126..18796450,2	K562	blood:
2	chr19:18703681..18707981-chr19:18746387..18750076,5	K562	blood:
3	chr19:18653590..18656982-chr19:18704077..18706738,3	K562	blood:
4	chr19:18678376..18688390-chr19:18697032..18707656,34	K562	blood:
5	chr19:18704422..18706630-chr19:18794126..18797351,3	K562	blood:
6	chr19:18682401..18684687-chr19:18702171..18705609,4	MCF-7	breast:
7	chr19:18703614..18706295-chr19:18717142..18718647,2	MCF-7	breast:
8	chr19:18534817..18537045-chr19:18704121..18707068,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105701	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000268983	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000006016	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10407212	0.89[ASN][1000 genomes]
rs10409392	0.85[JPT][hapmap]
rs10415257	0.89[ASN][1000 genomes]
rs1043192	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs12609505	0.85[JPT][hapmap]
rs1468475	0.85[JPT][hapmap]
rs1862645	0.95[JPT][hapmap]
rs2057649	0.95[JPT][hapmap]
rs2074174	0.91[ASN][1000 genomes]
rs2074175	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2079015	0.95[JPT][hapmap]
rs2238650	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2283616	0.85[JPT][hapmap]
rs2302055	0.85[JPT][hapmap]
rs2314664	0.95[JPT][hapmap]
rs2314665	0.95[JPT][hapmap]
rs2314666	0.90[JPT][hapmap]
rs3170474	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761032	0.92[CEU][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs4808137	0.85[JPT][hapmap]
rs4808138	0.91[EUR][1000 genomes]
rs4808823	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4808824	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808839	0.95[JPT][hapmap]
rs6417264	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554	0.85[JPT][hapmap]
rs709679	0.95[JPT][hapmap]
rs7248037	0.85[ASN][1000 genomes]
rs7250192	0.92[CEU][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7250623	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7252198	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259557	0.81[EUR][1000 genomes]
rs7648	0.85[JPT][hapmap]
rs8109364	0.81[JPT][hapmap]
rs886242	0.93[ASN][1000 genomes]
rs916791	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS 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	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active 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	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7256319	KIAA0892	cis	cerebellum	SCAN
rs7256319	HAPLN4	cis	parietal	SCAN
rs7256319	NDUFA13	cis	parietal	SCAN
rs7256319	RAB8A	cis	parietal	SCAN
rs7256319	UBA52	cis	lymphoblastoid	seeQTL
rs7256319	UNC13A	cis	parietal	SCAN
rs7256319	AP1M1	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18700400-18705400	Weak transcription	Aorta	Aorta
2	chr19:18700400-18705400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:18700800-18704600	Weak transcription	Small Intestine	intestine
4	chr19:18700800-18705200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:18701000-18705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:18701000-18705000	Weak transcription	Liver	Liver
7	chr19:18701000-18705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:18701000-18705000	Weak transcription	Brain Substantia Nigra	brain
9	chr19:18701000-18705000	Weak transcription	Psoas Muscle	Psoas
10	chr19:18701000-18705400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18701200-18705000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:18701200-18705000	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:18701200-18705000	Weak transcription	HUVEC	blood vessel
14	chr19:18701200-18713600	Weak transcription	HSMMtube	muscle
15	chr19:18701400-18704600	Weak transcription	NH-A	brain
16	chr19:18701400-18704800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:18701400-18704800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:18701400-18705000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:18701400-18706200	Weak transcription	HepG2	liver
20	chr19:18701600-18704800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:18701600-18705400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:18701600-18705400	Weak transcription	Fetal Heart	heart
23	chr19:18701800-18704600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:18701800-18704600	Weak transcription	A549	lung
25	chr19:18701800-18704800	Weak transcription	Primary B cells from cord blood	blood
26	chr19:18701800-18705000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:18701800-18705000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr19:18702000-18704600	Weak transcription	Brain Anterior Caudate	brain
29	chr19:18702000-18704600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:18702000-18704800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr19:18702000-18705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:18702000-18705000	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:18702000-18705400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:18702000-18705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr19:18702200-18704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:18702200-18704600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:18702200-18704800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:18702200-18705000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:18702200-18705000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18702200-18705000	Weak transcription	Colonic Mucosa	Colon
41	chr19:18702200-18705000	Weak transcription	Fetal Lung	lung
42	chr19:18702200-18705000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:18702200-18705000	Weak transcription	NHEK	skin
44	chr19:18702200-18705200	Weak transcription	Esophagus	oesophagus
45	chr19:18702200-18705200	Weak transcription	Left Ventricle	heart
46	chr19:18702200-18707600	Weak transcription	Gastric	stomach
47	chr19:18702400-18705000	Weak transcription	NHLF	lung
48	chr19:18702600-18704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:18702800-18705000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr19:18702800-18705400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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