Variant report

Variant	rs9297945
Chromosome Location	chr8:95749023-95749024
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	chr8:95735705..95737860-chr8:95746631..95749034,2	K562	blood:
2	chr8:95748810..95750822-chr8:95751159..95754074,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10101523	0.85[YRI][hapmap]
rs10109430	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.95[ASN][1000 genomes]
rs11786992	0.81[MEX][hapmap]
rs17718793	1.00[YRI][hapmap]
rs2554399	0.89[CHB][hapmap]
rs2722886	0.89[CHB][hapmap]
rs67763258	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67861508	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9297945	SCN7A	trans	cerebellum	SCAN
rs9297945	RAD54B	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95732800-95761400	Weak transcription	Spleen	Spleen
2	chr8:95732800-95780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95733000-95761600	Weak transcription	Aorta	Aorta
4	chr8:95733000-95784400	Weak transcription	Esophagus	oesophagus
5	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
6	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
7	chr8:95733200-95752000	Weak transcription	Primary B cells from cord blood	blood
8	chr8:95733200-95774600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:95733400-95752000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:95733400-95783800	Weak transcription	Gastric	stomach
12	chr8:95733400-95784800	Weak transcription	Small Intestine	intestine
13	chr8:95733600-95751800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:95733600-95753400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:95733600-95760200	Weak transcription	Thymus	Thymus
16	chr8:95733600-95779400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95733600-95782600	Weak transcription	Brain Substantia Nigra	brain
18	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:95733800-95751800	Weak transcription	NHEK	skin
20	chr8:95733800-95770400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:95733800-95783600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
23	chr8:95734000-95751400	Weak transcription	NHDF-Ad	bronchial
24	chr8:95734000-95751800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:95734000-95751800	Weak transcription	A549	lung
26	chr8:95734000-95761400	Weak transcription	HUVEC	blood vessel
27	chr8:95734000-95761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:95734000-95783600	Weak transcription	Fetal Kidney	kidney
29	chr8:95734200-95752000	Weak transcription	NH-A	brain
30	chr8:95734200-95784600	Weak transcription	Brain Angular Gyrus	brain
31	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
32	chr8:95737800-95777800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:95740400-95751600	Weak transcription	Primary T cells from cord blood	blood
34	chr8:95740400-95755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:95740600-95750400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:95740600-95751000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:95740600-95760800	Weak transcription	Right Ventricle	heart
38	chr8:95740600-95761200	Weak transcription	Pancreas	Pancrea
39	chr8:95740600-95769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:95740800-95751600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:95740800-95752000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:95740800-95760800	Weak transcription	Ovary	ovary
43	chr8:95740800-95782200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:95740800-95782800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:95741000-95751800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:95741000-95768600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:95741000-95778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:95741200-95749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:95741200-95751000	Weak transcription	Adipose Nuclei	Adipose

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