Variant report

Variant	rs2382443
Chromosome Location	chr9:14159460-14159461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14157830..14160337-chr9:14162200..14164831,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10756531	0.84[TSI][hapmap]
rs13300925	0.89[JPT][hapmap]
rs2382437	0.82[CHB][hapmap]
rs2382438	0.82[CHB][hapmap]
rs2382439	0.82[CHB][hapmap]
rs2382440	0.82[CHB][hapmap]
rs508940	0.81[CEU][hapmap]
rs6474820	0.82[CHB][hapmap]
rs7029562	0.91[CHB][hapmap]
rs7044402	0.96[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892595	chr9:14129951-14168029	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2382443	CCDC92	trans	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
3	chr9:14123800-14198600	Weak transcription	Gastric	stomach
4	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
5	chr9:14134000-14181000	Weak transcription	Ovary	ovary
6	chr9:14153600-14159600	Weak transcription	Fetal Brain Female	brain
7	chr9:14153600-14159600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:14156800-14175600	Weak transcription	Liver	Liver
9	chr9:14157400-14164400	Weak transcription	Fetal Brain Male	brain
10	chr9:14157600-14173600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:14158200-14159600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:14158200-14159600	Genic enhancers	A549	lung
13	chr9:14158200-14160600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:14158200-14161000	Enhancers	HUVEC	blood vessel
15	chr9:14158400-14159800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:14158400-14160400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:14158600-14159800	Enhancers	HMEC	breast
18	chr9:14158600-14159800	Enhancers	NHDF-Ad	bronchial
19	chr9:14158800-14159800	Enhancers	Psoas Muscle	Psoas
20	chr9:14158800-14160000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:14158800-14160000	Enhancers	NHEK	skin
22	chr9:14158800-14160600	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:14158800-14160600	Enhancers	Fetal Heart	heart
24	chr9:14159000-14159600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:14159000-14159600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:14159000-14159600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr9:14159000-14159600	Enhancers	NH-A	brain
28	chr9:14159000-14159800	Enhancers	Aorta	Aorta
29	chr9:14159000-14159800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr9:14159000-14159800	Enhancers	Left Ventricle	heart
31	chr9:14159000-14159800	Enhancers	NHLF	lung
32	chr9:14159000-14160000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:14159000-14160000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:14159000-14160000	Enhancers	Brain Substantia Nigra	brain
35	chr9:14159000-14160000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:14159000-14160000	Enhancers	Small Intestine	intestine
37	chr9:14159000-14160000	Enhancers	Osteobl	bone
38	chr9:14159000-14160200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:14159000-14160200	Enhancers	Brain Angular Gyrus	brain
40	chr9:14159000-14160200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:14159000-14160400	Enhancers	Brain Hippocampus Middle	brain
42	chr9:14159000-14160600	Enhancers	Brain Germinal Matrix	brain
43	chr9:14159000-14160600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:14159200-14159600	Enhancers	Brain Anterior Caudate	brain
45	chr9:14159200-14159800	Enhancers	Adipose Nuclei	Adipose
46	chr9:14159200-14159800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:14159200-14159800	Enhancers	Colon Smooth Muscle	Colon
48	chr9:14159200-14159800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr9:14159200-14160000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:14159200-14160600	Enhancers	HSMM	muscle

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