Variant report

Variant	rs7044402
Chromosome Location	chr9:14157468-14157469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10511592	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs12004755	0.86[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs12552654	0.86[JPT][hapmap]
rs12554151	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs13300925	0.93[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16931403	0.85[JPT][hapmap];0.87[AMR][1000 genomes]
rs16931436	0.85[CEU][hapmap]
rs2382443	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs7028001	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs7031735	0.85[JPT][hapmap]
rs7042365	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs7045411	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs723968	0.85[CEU][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes]
rs73642097	0.81[ASN][1000 genomes]
rs7863447	0.92[CEU][hapmap]

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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
4	chr9:14120200-14159000	Weak transcription	NHLF	lung
5	chr9:14120600-14159000	Weak transcription	NH-A	brain
6	chr9:14123800-14198600	Weak transcription	Gastric	stomach
7	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
8	chr9:14134000-14181000	Weak transcription	Ovary	ovary
9	chr9:14134200-14159400	Weak transcription	Fetal Stomach	stomach
10	chr9:14142200-14159000	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:14145000-14159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:14146800-14159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:14149200-14159000	Weak transcription	Osteobl	bone
14	chr9:14151800-14159000	Weak transcription	Aorta	Aorta
15	chr9:14152600-14159200	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:14153600-14158600	Weak transcription	NHDF-Ad	bronchial
17	chr9:14153600-14159000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:14153600-14159000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:14153600-14159600	Weak transcription	Fetal Brain Female	brain
20	chr9:14153600-14159600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:14153800-14158200	Weak transcription	A549	lung
22	chr9:14153800-14159000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:14153800-14159200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr9:14155200-14159200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:14155200-14159200	Weak transcription	HSMM	muscle
26	chr9:14155400-14159000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:14155600-14158800	Weak transcription	NHEK	skin
28	chr9:14156200-14158000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr9:14156600-14157600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:14156800-14157800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:14156800-14158200	Weak transcription	Psoas Muscle	Psoas
32	chr9:14156800-14158800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:14156800-14159000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr9:14156800-14159000	Weak transcription	Left Ventricle	heart
35	chr9:14156800-14159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr9:14156800-14159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:14156800-14159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:14156800-14159400	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:14156800-14159400	Weak transcription	Right Ventricle	heart
40	chr9:14156800-14175600	Weak transcription	Liver	Liver
41	chr9:14157000-14158600	Weak transcription	HMEC	breast
42	chr9:14157000-14159000	Weak transcription	Brain Substantia Nigra	brain
43	chr9:14157000-14159000	Weak transcription	Small Intestine	intestine
44	chr9:14157000-14159400	Weak transcription	Right Atrium	heart
45	chr9:14157200-14157600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:14157200-14158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:14157200-14158800	Weak transcription	Fetal Heart	heart
48	chr9:14157200-14159000	Weak transcription	Fetal Lung	lung
49	chr9:14157200-14159200	Weak transcription	Adipose Nuclei	Adipose
50	chr9:14157400-14158200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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