Variant report

Variant	rs9316470
Chromosome Location	chr13:50203763-50203764
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	chr13:50198466..50201359-chr13:50202667..50205096,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12429350	1.00[CHB][hapmap]
rs2236326	0.87[YRI][hapmap]
rs55693373	0.84[AFR][1000 genomes]
rs7318922	0.88[YRI][hapmap]
rs7327293	0.87[MKK][hapmap];0.91[TSI][hapmap]
rs7996015	0.88[YRI][hapmap]
rs8002212	0.88[YRI][hapmap]
rs9591288	0.80[ASW][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs9671042	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS 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 target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9316470	EBPL	cis	multi-tissue	Pritchard
rs9316470	RCBTB1	cis	Whole Blood	GTEx
rs9316470	RCBTB1	cis	multi-tissue	Pritchard
rs9316470	SNORA31	cis	cerebellum	SCAN
rs9316470	RCBTB1	cis	parietal	SCAN
rs9316470	SPERT	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50200400-50203800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:50200400-50209800	Weak transcription	Gastric	stomach
3	chr13:50202000-50203800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr13:50202000-50203800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr13:50202000-50204000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:50202000-50204600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr13:50202000-50204600	Enhancers	Fetal Heart	heart
8	chr13:50202000-50205200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:50202200-50203800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:50202400-50204000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr13:50202400-50204000	Enhancers	HUVEC	blood vessel
12	chr13:50202400-50210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:50202600-50204000	Weak transcription	Right Ventricle	heart
14	chr13:50202800-50204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:50202800-50204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50202800-50204600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:50202800-50204600	Enhancers	HepG2	liver
18	chr13:50202800-50205000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:50203000-50203800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:50203000-50203800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr13:50203000-50204000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:50203000-50204400	Weak transcription	Esophagus	oesophagus
24	chr13:50203000-50204400	Weak transcription	Fetal Intestine Small	intestine
25	chr13:50203000-50204600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr13:50203000-50205000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr13:50203000-50209000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:50203000-50209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:50203000-50209400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:50203200-50204000	Enhancers	Liver	Liver
31	chr13:50203200-50204000	Enhancers	Right Atrium	heart
32	chr13:50203200-50204200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:50203200-50204200	Enhancers	Fetal Muscle Leg	muscle
34	chr13:50203200-50204200	Enhancers	Fetal Thymus	thymus
35	chr13:50203200-50204200	Enhancers	Spleen	Spleen
36	chr13:50203200-50204400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr13:50203200-50204400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:50203200-50204400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:50203200-50204600	Weak transcription	Thymus	Thymus
40	chr13:50203200-50204600	Enhancers	K562	blood
41	chr13:50203200-50204800	Enhancers	Placenta	Placenta
42	chr13:50203200-50208800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:50203200-50209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:50203200-50210600	Weak transcription	Small Intestine	intestine
45	chr13:50203200-50212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:50203400-50204200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr13:50203400-50204600	Weak transcription	Lung	lung
48	chr13:50203400-50204600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr13:50203400-50205000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:50203400-50209200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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