Variant report

Variant	rs72833426
Chromosome Location	chr17:45883799-45883800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45878350..45884136-chr17:45884210..45889440,8	MCF-7	breast:
2	chr17:45882984..45885950-chr17:45891255..45893938,2	MCF-7	breast:
3	chr17:45878851..45881685-chr17:45882188..45884367,2	K562	blood:
4	chr17:45882830..45886365-chr17:45971325..45973276,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264920	Chromatin interaction
ENSG00000006025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1005655	0.87[ASN][1000 genomes]
rs11079795	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11079796	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650289	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11650536	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11652439	0.85[ASN][1000 genomes]
rs16948401	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16948590	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16948722	0.87[ASN][1000 genomes]
rs3809869	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs701984	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72833426	SCRN2	cis	Muscle Skeletal	GTEx
rs72833426	OSBPL7	cis	Thyroid	GTEx
rs72833426	SCRN2	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45876200-45883800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr17:45879800-45884200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:45879800-45885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:45880200-45884600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr17:45880200-45885000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:45880400-45884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:45880800-45884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:45881000-45884000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:45881000-45884000	Weak transcription	Lung	lung
10	chr17:45881000-45884000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:45881000-45884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:45881000-45884000	Weak transcription	Spleen	Spleen
13	chr17:45881200-45884000	Weak transcription	Fetal Intestine Large	intestine
14	chr17:45881200-45884400	Weak transcription	Primary T cells from cord blood	blood
15	chr17:45881400-45884000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:45881400-45884000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:45881400-45884200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45881600-45884000	Weak transcription	Brain Anterior Caudate	brain
19	chr17:45881600-45884200	Weak transcription	HSMM	muscle
20	chr17:45881600-45884800	Weak transcription	Primary B cells from cord blood	blood
21	chr17:45881600-45885200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45881600-45897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:45881800-45883800	Enhancers	Fetal Muscle Trunk	muscle
24	chr17:45881800-45884000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:45881800-45884200	Enhancers	Fetal Heart	heart
26	chr17:45881800-45884400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:45881800-45884400	Weak transcription	Colonic Mucosa	Colon
28	chr17:45881800-45884400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr17:45882000-45884000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:45882000-45884000	Weak transcription	Pancreas	Pancrea
31	chr17:45882000-45884200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:45882000-45884200	Weak transcription	Brain Hippocampus Middle	brain
33	chr17:45882000-45884200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr17:45882000-45884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:45882000-45884400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:45882000-45884600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:45882000-45885200	Weak transcription	Stomach Mucosa	stomach
38	chr17:45882000-45887200	Weak transcription	NH-A	brain
39	chr17:45882000-45891800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:45882200-45884200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:45882200-45884200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr17:45882200-45884200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:45882200-45884200	Weak transcription	Dnd41	blood
44	chr17:45882200-45884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:45882200-45884800	Weak transcription	HepG2	liver
46	chr17:45882200-45886400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr17:45882200-45892000	Weak transcription	Fetal Kidney	kidney
48	chr17:45882400-45884000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:45882400-45884000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:45882400-45884000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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