Variant report

Variant	rs9348921
Chromosome Location	chr6:33586179-33586180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr6:33585873-33586305	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33557568..33558267-chr6:33586070..33586956,2	MCF-7	breast:
2	chr6:33386588..33389201-chr6:33584352..33586241,2	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000197283	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12662525	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3916279	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs407415	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs434026	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs444697	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713646	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55642707	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55792355	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7768202	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9348922	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368768	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9368769	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9469532	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
6	esv3471778	chr6:33581874-33587572	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3502814	chr6:33581974-33586972	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3502822	chr6:33582379-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3502820	chr6:33582474-33586872	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3502823	chr6:33582807-33586474	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv2575696	chr6:33582877-33586760	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3471783	chr6:33582999-33586847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1814733	chr6:33584788-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv1822053	chr6:33584788-33587443	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1822157	chr6:33584788-33587443	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:33578800-33588000	Weak transcription	Gastric	stomach
3	chr6:33579200-33586600	Weak transcription	Fetal Lung	lung
4	chr6:33579200-33587000	Weak transcription	Pancreas	Pancrea
5	chr6:33579400-33587000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:33579400-33587000	Weak transcription	Right Atrium	heart
7	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:33580000-33586800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
10	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
11	chr6:33581800-33586800	Weak transcription	A549	lung
12	chr6:33582000-33586600	Weak transcription	Placenta	Placenta
13	chr6:33582000-33586800	Weak transcription	Colonic Mucosa	Colon
14	chr6:33582000-33587000	Weak transcription	Left Ventricle	heart
15	chr6:33582000-33587400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33582000-33587400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:33582000-33587400	Weak transcription	NHLF	lung
18	chr6:33582200-33586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:33582200-33587200	Enhancers	Hela-S3	cervix
20	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:33582400-33586800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:33582400-33586800	Weak transcription	Stomach Mucosa	stomach
23	chr6:33582400-33587000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:33582400-33587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:33582400-33587200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:33582400-33587200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:33582600-33586800	Weak transcription	Lung	lung
28	chr6:33583000-33586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:33583000-33586600	Weak transcription	NHDF-Ad	bronchial
30	chr6:33583000-33587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:33583000-33587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:33583000-33587000	Weak transcription	HSMMtube	muscle
33	chr6:33583200-33586600	Weak transcription	HMEC	breast
34	chr6:33583200-33587000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
37	chr6:33584200-33586200	Enhancers	Primary T cells from cord blood	blood
38	chr6:33584200-33586600	Weak transcription	Right Ventricle	heart
39	chr6:33584400-33586800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:33585000-33587200	Weak transcription	K562	blood
41	chr6:33585200-33586800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:33585200-33587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:33585200-33587600	Weak transcription	Osteobl	bone
44	chr6:33585400-33586600	Weak transcription	Fetal Intestine Large	intestine
45	chr6:33585400-33586600	Weak transcription	Fetal Thymus	thymus
46	chr6:33585400-33587000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:33585400-33587200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr6:33585400-33587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:33586000-33586200	Enhancers	HUVEC	blood vessel
50	chr6:33586000-33586200	Enhancers	NHEK	skin

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