Variant report

Variant	rs444697
Chromosome Location	chr6:33575009-33575010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33567572..33569907-chr6:33573549..33575919,2	MCF-7	breast:
2	chr6:33574216..33577618-chr6:33579266..33582393,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12662525	0.82[EUR][1000 genomes]
rs210137	0.81[GIH][hapmap]
rs210138	0.81[GIH][hapmap]
rs210217	0.84[ASN][1000 genomes]
rs375555	0.82[GIH][hapmap]
rs3916279	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407415	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs434026	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713646	0.94[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs55792355	0.85[EUR][1000 genomes]
rs7768202	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348921	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9348922	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9368769	0.81[EUR][1000 genomes]
rs9469532	0.84[CHD][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs444697	ITPR3	cis	multi-tissue	Pritchard

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33567600-33575800	Weak transcription	Right Atrium	heart
2	chr6:33567600-33575800	Weak transcription	Right Ventricle	heart
3	chr6:33567800-33575400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:33571600-33579000	Enhancers	Placenta	Placenta
5	chr6:33572200-33576800	Weak transcription	Lung	lung
6	chr6:33573200-33576600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:33573400-33575400	Weak transcription	NHDF-Ad	bronchial
8	chr6:33573400-33575800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:33573400-33575800	Weak transcription	HSMM	muscle
10	chr6:33573400-33576200	Weak transcription	HSMMtube	muscle
11	chr6:33573400-33577200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:33573400-33577600	Weak transcription	Colonic Mucosa	Colon
13	chr6:33574200-33576000	Enhancers	HepG2	liver
14	chr6:33574200-33577000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:33574400-33575200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:33574400-33575600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:33574400-33575600	Enhancers	NHEK	skin
18	chr6:33574400-33575800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:33574400-33576000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:33574400-33578600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:33574400-33579000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:33574400-33579400	Enhancers	Spleen	Spleen
23	chr6:33574400-33579600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:33574400-33579600	Enhancers	Stomach Mucosa	stomach
25	chr6:33574400-33583200	Enhancers	HMEC	breast
26	chr6:33574600-33575200	Enhancers	Fetal Intestine Small	intestine
27	chr6:33574600-33575400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:33574600-33575400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:33574600-33575400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:33574600-33576800	Enhancers	Hela-S3	cervix
31	chr6:33574600-33580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:33574800-33575200	Enhancers	Brain Germinal Matrix	brain
34	chr6:33574800-33575400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:33574800-33575600	Enhancers	Esophagus	oesophagus
36	chr6:33574800-33575800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:33574800-33575800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:33574800-33575800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:33574800-33576400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:33574800-33576400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:33574800-33576400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:33574800-33579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:33575000-33575200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:33575000-33575400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:33575000-33575600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:33575000-33576000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:33575000-33576200	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:33575000-33576400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:33575000-33576800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:33575000-33577000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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