Variant report

Variant	rs7360000
Chromosome Location	chr19:19266848-19266849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19264781..19267445-chr19:19268934..19271161,3	K562	blood:
2	chr19:19265254..19267888-chr19:19269350..19271423,2	MCF-7	breast:
3	chr19:19143699..19146589-chr19:19265507..19267370,2	MCF-7	breast:
4	chr19:19264781..19267345-chr19:19269260..19271161,2	K562	blood:

Variant related genes	Relation type
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11085254	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1124855	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668319	0.91[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs11669988	0.85[CHB][hapmap];0.88[TSI][hapmap]
rs11671619	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11672862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11878301	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879715	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12162246	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12162274	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974661	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16995922	0.85[CHB][hapmap];0.88[TSI][hapmap]
rs2006991	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283618	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283619	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283622	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28584534	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34719098	0.83[EUR][1000 genomes]
rs35743105	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819578	0.91[CEU][hapmap];0.84[CHB][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs3890384	0.84[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4471820	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57157462	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58190593	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59829545	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59953916	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60450968	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60636572	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61061000	0.81[EUR][1000 genomes]
rs66907536	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67801643	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67845377	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67868334	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997105	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73535580	0.93[EUR][1000 genomes];0.86[ASN][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7360000	CALR3	cis	parietal	SCAN
rs7360000	MEF2B	cis	Thyroid	GTEx
rs7360000	ATP13A1	cis	multi-tissue	Pritchard
rs7360000	MEF2B	cis	Whole Blood	GTEx
rs7360000	NR2C2AP	cis	parietal	SCAN
rs7360000	KIAA0892	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19249400-19271200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:19249600-19271800	Weak transcription	Brain Substantia Nigra	brain
3	chr19:19249600-19282600	Weak transcription	NHLF	lung
4	chr19:19249800-19269000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:19249800-19271200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:19249800-19280600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:19250600-19271800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:19252800-19272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:19257000-19271200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:19257000-19271600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:19257000-19280400	Weak transcription	Gastric	stomach
12	chr19:19257000-19280400	Weak transcription	Pancreas	Pancrea
13	chr19:19257400-19269000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:19257800-19270000	Weak transcription	Osteobl	bone
15	chr19:19257800-19270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19258000-19267800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:19258400-19280600	Weak transcription	Right Ventricle	heart
18	chr19:19258600-19273000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:19258800-19272600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:19258800-19280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:19259000-19290200	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:19259200-19267000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:19259400-19268200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:19260200-19271600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr19:19260200-19280600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:19260200-19280600	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:19260400-19267200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:19260400-19267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:19260400-19267600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19260400-19269400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:19260400-19280800	Weak transcription	Ovary	ovary
32	chr19:19260600-19267400	Weak transcription	Dnd41	blood
33	chr19:19260600-19270200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr19:19260600-19270600	Weak transcription	Esophagus	oesophagus
35	chr19:19260600-19270600	Weak transcription	Fetal Thymus	thymus
36	chr19:19260600-19271000	Weak transcription	Thymus	Thymus
37	chr19:19260600-19280400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:19260600-19280400	Weak transcription	Brain Anterior Caudate	brain
39	chr19:19260600-19280400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr19:19260600-19280400	Weak transcription	Lung	lung
41	chr19:19260600-19281000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr19:19260800-19280800	Weak transcription	Liver	Liver
43	chr19:19261600-19267000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:19261800-19271000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:19262400-19276200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:19262400-19276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:19263800-19271600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:19264000-19267000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:19264200-19280800	Weak transcription	HSMMtube	muscle
50	chr19:19265200-19268600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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