Variant report

Variant	rs7251067
Chromosome Location	chr19:18600056-18600057
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18596615..18599605-chr19:18599689..18601535,3	K562	blood:
2	chr19:18599219..18600750-chr19:18614089..18616331,2	MCF-7	breast:
3	chr19:18599505..18602337-chr19:18612086..18613638,2	MCF-7	breast:
4	chr19:18597781..18601216-chr19:18667431..18670376,3	MCF-7	breast:
5	chr19:18594286..18597312-chr19:18598721..18600664,3	K562	blood:
6	chr19:18594916..18600646-chr19:18631140..18634129,11	MCF-7	breast:
7	chr19:18581749..18584173-chr19:18598767..18601257,2	K562	blood:
8	chr19:18597905..18599605-chr19:18599689..18601535,2	K562	blood:
9	chr19:18598368..18601612-chr19:18604293..18607199,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105700	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs187957	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303694	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314670	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3746176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8102195	0.87[ASN][1000 genomes]
rs8103520	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
6	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	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
8	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7251067	ZNF43	cis	cerebellum	SCAN
rs7251067	ANO8	cis	cerebellum	SCAN
rs7251067	OR7A5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18591000-18605400	Weak transcription	Thymus	Thymus
3	chr19:18591400-18605200	Weak transcription	Primary T cells from cord blood	blood
4	chr19:18591400-18605400	Weak transcription	GM12878-XiMat	blood
5	chr19:18593600-18606400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr19:18593800-18601600	Enhancers	Liver	Liver
7	chr19:18594000-18600400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:18594000-18601800	Enhancers	Lung	lung
9	chr19:18594000-18605000	Enhancers	Pancreas	Pancrea
10	chr19:18594000-18621800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:18594200-18601600	Enhancers	Placenta	Placenta
12	chr19:18594600-18605600	Weak transcription	Fetal Brain Female	brain
13	chr19:18595200-18600600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18595200-18600800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr19:18595400-18601800	Enhancers	Left Ventricle	heart
16	chr19:18595400-18605800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:18595600-18601600	Enhancers	Psoas Muscle	Psoas
18	chr19:18595600-18601800	Enhancers	Right Ventricle	heart
19	chr19:18595800-18600200	Enhancers	Esophagus	oesophagus
20	chr19:18596000-18601200	Enhancers	Right Atrium	heart
21	chr19:18596000-18601400	Enhancers	Fetal Thymus	thymus
22	chr19:18596200-18601200	Enhancers	Brain Anterior Caudate	brain
23	chr19:18596800-18600200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:18596800-18600200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:18596800-18600200	Enhancers	Brain Substantia Nigra	brain
26	chr19:18596800-18600200	Enhancers	Colon Smooth Muscle	Colon
27	chr19:18597000-18600600	Enhancers	HMEC	breast
28	chr19:18597000-18600800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:18597200-18601000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr19:18597200-18601800	Enhancers	Fetal Muscle Leg	muscle
31	chr19:18597400-18600200	Enhancers	HSMM	muscle
32	chr19:18597400-18600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18597400-18603800	Weak transcription	Fetal Kidney	kidney
34	chr19:18597600-18600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:18597600-18600400	Enhancers	Brain Cingulate Gyrus	brain
36	chr19:18597600-18600400	Enhancers	Fetal Muscle Trunk	muscle
37	chr19:18597600-18602000	Enhancers	K562	blood
38	chr19:18597600-18606600	Enhancers	Duodenum Mucosa	Duodenum
39	chr19:18597800-18600400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:18597800-18603800	Weak transcription	Fetal Lung	lung
41	chr19:18597800-18604400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:18597800-18604400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:18597800-18605400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:18598000-18601200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:18598000-18603400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr19:18598000-18604400	Weak transcription	NHLF	lung
47	chr19:18598000-18605200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr19:18598000-18609800	Weak transcription	Fetal Intestine Large	intestine
49	chr19:18598200-18600800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18598200-18605400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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