Variant report

Variant	rs1995933
Chromosome Location	chr9:94042707-94042708
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	chr9:94040815..94043088-chr9:94045185..94047903,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1397574	0.81[EUR][1000 genomes]
rs1615811	0.91[ASN][1000 genomes]
rs16907201	1.00[CHB][hapmap]
rs1972090	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015325	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2457715	0.97[ASN][1000 genomes]
rs2482338	0.82[EUR][1000 genomes]
rs2482340	0.82[EUR][1000 genomes]
rs298723	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744042	0.94[ASN][1000 genomes]
rs773513	0.88[CEU][hapmap]
rs773514	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9299391	0.88[CEU][hapmap];0.82[EUR][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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1995933	SPIN3	trans	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93983000-94054000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:93984000-94052200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:93984000-94054600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:93995800-94052400	Weak transcription	Fetal Stomach	stomach
5	chr9:94004600-94051800	Weak transcription	Liver	Liver
6	chr9:94011400-94055400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:94019000-94056600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94019200-94059200	Weak transcription	Spleen	Spleen
9	chr9:94019400-94053400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:94019400-94068200	Weak transcription	Right Ventricle	heart
11	chr9:94019800-94044000	Weak transcription	Left Ventricle	heart
12	chr9:94023800-94048400	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:94024200-94054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:94024400-94048000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:94024400-94054600	Weak transcription	Primary B cells from cord blood	blood
16	chr9:94024800-94044600	Weak transcription	HepG2	liver
17	chr9:94024800-94059400	Weak transcription	Pancreas	Pancrea
18	chr9:94026000-94054000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:94026800-94046800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:94027000-94055000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:94028200-94053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:94029400-94080000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:94029800-94052400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:94030200-94052400	Weak transcription	Primary T cells from cord blood	blood
25	chr9:94032600-94052600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:94032600-94055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:94032800-94053200	Weak transcription	Ovary	ovary
28	chr9:94032800-94057000	Weak transcription	Aorta	Aorta
29	chr9:94033800-94096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:94034800-94055000	Weak transcription	Fetal Brain Female	brain
31	chr9:94035200-94048200	Weak transcription	Brain Germinal Matrix	brain
32	chr9:94035200-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:94035400-94064800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:94035600-94052200	Weak transcription	Fetal Intestine Small	intestine
35	chr9:94035800-94052400	Weak transcription	Fetal Intestine Large	intestine
36	chr9:94035800-94055200	Weak transcription	Fetal Heart	heart
37	chr9:94037000-94052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:94037200-94044600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:94037400-94047800	Weak transcription	Brain Angular Gyrus	brain
40	chr9:94037400-94047800	Weak transcription	Fetal Lung	lung
41	chr9:94037400-94054600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:94037400-94060200	Weak transcription	NHDF-Ad	bronchial
43	chr9:94037600-94044200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:94037600-94044200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr9:94037800-94043200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:94038400-94055200	Weak transcription	Adipose Nuclei	Adipose
47	chr9:94038600-94044000	Weak transcription	Psoas Muscle	Psoas
48	chr9:94038800-94048000	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:94039200-94089800	Weak transcription	Esophagus	oesophagus
50	chr9:94039400-94060800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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