Variant report

Variant	rs7029940
Chromosome Location	chr9:14275239-14275240
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10435726	0.80[CHB][hapmap]
rs10810121	0.90[CHB][hapmap]
rs10961455	0.90[ASW][hapmap];0.82[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10961456	1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[ASN][1000 genomes]
rs10961460	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14269200-14275600	Enhancers	Liver	Liver
2	chr9:14269400-14275600	Enhancers	Fetal Stomach	stomach
3	chr9:14270000-14275800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:14270800-14275600	Enhancers	HSMM	muscle
5	chr9:14270800-14277200	Enhancers	Osteobl	bone
6	chr9:14271000-14279000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:14271200-14278400	Weak transcription	Lung	lung
8	chr9:14271200-14306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:14271800-14277200	Weak transcription	HepG2	liver
10	chr9:14271800-14277400	Weak transcription	Pancreas	Pancrea
11	chr9:14272000-14277200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:14272000-14281400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:14272200-14277200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:14272200-14296800	Weak transcription	Hela-S3	cervix
15	chr9:14272800-14275600	Enhancers	Brain Angular Gyrus	brain
16	chr9:14272800-14275600	Enhancers	Stomach Mucosa	stomach
17	chr9:14272800-14277000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:14273000-14275400	Flanking Active TSS	NHEK	skin
19	chr9:14273000-14275600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:14273000-14275600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr9:14273000-14275600	Enhancers	Left Ventricle	heart
22	chr9:14273000-14275600	Enhancers	Psoas Muscle	Psoas
23	chr9:14273000-14275800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:14273000-14276600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:14273200-14275600	Enhancers	Fetal Muscle Leg	muscle
26	chr9:14273200-14275800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:14273400-14281600	Weak transcription	Fetal Intestine Small	intestine
28	chr9:14273600-14275600	Enhancers	Gastric	stomach
29	chr9:14273600-14277600	Weak transcription	Small Intestine	intestine
30	chr9:14273600-14285400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:14274000-14275400	Enhancers	Brain Cingulate Gyrus	brain
32	chr9:14274000-14275600	Enhancers	Brain Hippocampus Middle	brain
33	chr9:14274000-14275600	Enhancers	Right Ventricle	heart
34	chr9:14274000-14275600	Enhancers	HSMMtube	muscle
35	chr9:14274000-14275600	Enhancers	NHLF	lung
36	chr9:14274000-14275800	Enhancers	Adipose Nuclei	Adipose
37	chr9:14274000-14275800	Enhancers	Fetal Lung	lung
38	chr9:14274000-14275800	Enhancers	Rectal Smooth Muscle	rectum
39	chr9:14274000-14276000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:14274000-14276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:14274000-14278400	Enhancers	A549	lung
42	chr9:14274000-14280000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:14274000-14282800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:14274400-14276600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:14274400-14276800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:14274400-14278800	Enhancers	Colon Smooth Muscle	Colon
47	chr9:14274400-14282600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:14274600-14275600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:14274600-14276000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:14274600-14276000	Enhancers	Brain Substantia Nigra	brain

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