Variant report

Variant	rs12340320
Chromosome Location	chr9:14122059-14122060
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	chr9:14084490..14087404-chr9:14119723..14122409,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10118048	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12348427	0.97[AFR][1000 genomes]
rs475732	0.83[AFR][1000 genomes]
rs510970	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs530197	1.00[EUR][1000 genomes]
rs548824	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs552338	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs571693	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs766402	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7858	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
3	chr9:14103200-14122800	Weak transcription	Brain Anterior Caudate	brain
4	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
5	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
7	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
8	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
9	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:14111400-14124200	Weak transcription	Spleen	Spleen
11	chr9:14114400-14125200	Weak transcription	Colonic Mucosa	Colon
12	chr9:14115400-14127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:14116200-14127000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
15	chr9:14116600-14128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:14116800-14123600	Weak transcription	Lung	lung
20	chr9:14116800-14125200	Weak transcription	Left Ventricle	heart
21	chr9:14116800-14125600	Weak transcription	Ovary	ovary
22	chr9:14116800-14128600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
25	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:14118400-14126200	Weak transcription	HSMM	muscle
27	chr9:14118400-14127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:14119200-14122600	Weak transcription	A549	lung
29	chr9:14119600-14123200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:14120200-14159000	Weak transcription	NHLF	lung
31	chr9:14120400-14122200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:14120400-14124000	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:14120400-14124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:14120600-14123400	Weak transcription	Aorta	Aorta
36	chr9:14120600-14123600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:14120600-14123600	Weak transcription	Gastric	stomach
38	chr9:14120600-14125400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:14120600-14125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:14120600-14126400	Weak transcription	Fetal Brain Male	brain
41	chr9:14120600-14127000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:14120600-14127600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr9:14120600-14128400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr9:14120600-14130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:14120600-14131400	Weak transcription	Pancreas	Pancrea
46	chr9:14120600-14132600	Weak transcription	Psoas Muscle	Psoas
47	chr9:14120600-14133600	Weak transcription	Right Ventricle	heart
48	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:14120600-14159000	Weak transcription	NH-A	brain

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