Variant report

Variant	rs2382444
Chromosome Location	chr9:14221591-14221592
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	chr9:14213715..14216528-chr9:14218687..14222056,3	K562	blood:
2	chr9:14220500..14222113-chr9:14225343..14228147,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10961430	0.91[ASN][1000 genomes]
rs4741349	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4741350	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4741351	0.87[ASN][1000 genomes]
rs7040930	0.87[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][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	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:14209800-14223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:14211800-14222200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:14212200-14221800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:14214200-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:14214200-14222600	Enhancers	Osteobl	bone
8	chr9:14214400-14222200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:14216200-14221600	Enhancers	HUVEC	blood vessel
10	chr9:14217600-14221600	Enhancers	Fetal Heart	heart
11	chr9:14217600-14222400	Enhancers	Fetal Lung	lung
12	chr9:14217800-14222200	Enhancers	Adipose Nuclei	Adipose
13	chr9:14218000-14222200	Enhancers	Fetal Muscle Leg	muscle
14	chr9:14218000-14222200	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:14218000-14222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:14218000-14222600	Enhancers	Colon Smooth Muscle	Colon
17	chr9:14218000-14222600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr9:14218400-14222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:14218400-14222400	Enhancers	HSMMtube	muscle
20	chr9:14218600-14221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:14218600-14221600	Weak transcription	Stomach Mucosa	stomach
22	chr9:14218800-14221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:14218800-14221800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:14218800-14221800	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:14218800-14222400	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:14219000-14221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:14219000-14221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:14219000-14222000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:14219000-14222000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:14219000-14222400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:14219200-14221600	Weak transcription	Small Intestine	intestine
32	chr9:14219400-14222000	Enhancers	Brain Germinal Matrix	brain
33	chr9:14219600-14222400	Enhancers	HSMM	muscle
34	chr9:14219800-14222400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:14219800-14222600	Enhancers	Psoas Muscle	Psoas
36	chr9:14219800-14222600	Enhancers	HMEC	breast
37	chr9:14219800-14222800	Enhancers	Right Ventricle	heart
38	chr9:14220000-14221600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:14220000-14221800	Enhancers	Aorta	Aorta
40	chr9:14220000-14222400	Enhancers	Placenta	Placenta
41	chr9:14220000-14222400	Enhancers	NHDF-Ad	bronchial
42	chr9:14220000-14222600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:14220000-14222600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:14220000-14222800	Enhancers	Right Atrium	heart
45	chr9:14220000-14224000	Enhancers	Pancreas	Pancrea
46	chr9:14220000-14224200	Enhancers	Left Ventricle	heart
47	chr9:14220200-14222000	Weak transcription	Fetal Intestine Small	intestine
48	chr9:14220200-14222600	Enhancers	Hela-S3	cervix
49	chr9:14220400-14222200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:14220400-14222600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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