Variant report

Variant	rs571693
Chromosome Location	chr9:14110242-14110243
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10118048	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10511590	0.83[EUR][1000 genomes]
rs10738353	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs10810092	0.87[EUR][1000 genomes]
rs10961380	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10961384	0.87[EUR][1000 genomes]
rs10961385	0.86[EUR][1000 genomes]
rs12340320	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12348427	0.83[AFR][1000 genomes]
rs13284590	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs13298724	0.90[EUR][1000 genomes]
rs16931379	0.84[EUR][1000 genomes]
rs17210326	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2307079	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs2382436	0.90[EUR][1000 genomes]
rs35381921	0.91[EUR][1000 genomes]
rs36097937	0.90[EUR][1000 genomes]
rs475732	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs483669	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs498010	0.86[EUR][1000 genomes]
rs510970	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs548824	0.82[YRI][hapmap];0.91[AFR][1000 genomes]
rs551272	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs551362	0.94[EUR][1000 genomes]
rs552338	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs573057	1.00[JPT][hapmap]
rs576216	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs693566	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7018755	0.94[EUR][1000 genomes]
rs7021992	0.83[EUR][1000 genomes]
rs7024088	0.83[EUR][1000 genomes]
rs7032993	0.85[EUR][1000 genomes]
rs7034613	0.94[EUR][1000 genomes]
rs766401	0.91[JPT][hapmap]
rs766402	0.86[AFR][1000 genomes]
rs7858	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7863254	0.83[EUR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14075400-14116000	Weak transcription	Gastric	stomach
2	chr9:14078000-14112800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:14081400-14115800	Weak transcription	Hela-S3	cervix
4	chr9:14086000-14115600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:14090600-14115200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:14096800-14120000	Weak transcription	Brain Substantia Nigra	brain
7	chr9:14097400-14111800	Weak transcription	Left Ventricle	heart
8	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
9	chr9:14097600-14112400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:14097800-14111800	Weak transcription	HMEC	breast
11	chr9:14098400-14115800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:14098800-14115600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:14098800-14116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:14099000-14111800	Weak transcription	Pancreas	Pancrea
15	chr9:14099000-14112200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:14099000-14112600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:14099000-14113600	Weak transcription	Fetal Brain Male	brain
18	chr9:14099000-14115600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:14099000-14116000	Weak transcription	Psoas Muscle	Psoas
20	chr9:14099200-14111600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:14099200-14111800	Weak transcription	NH-A	brain
22	chr9:14099200-14112600	Weak transcription	Osteobl	bone
23	chr9:14100000-14112200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:14100200-14111200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:14100200-14112600	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:14101000-14113000	Weak transcription	Placenta	Placenta
27	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
28	chr9:14102800-14112400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:14103000-14111800	Weak transcription	Brain Germinal Matrix	brain
30	chr9:14103000-14112200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:14103000-14115800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:14103200-14122800	Weak transcription	Brain Anterior Caudate	brain
33	chr9:14103400-14112200	Weak transcription	NHLF	lung
34	chr9:14103400-14116000	Weak transcription	Aorta	Aorta
35	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
36	chr9:14103600-14111800	Weak transcription	NHEK	skin
37	chr9:14103600-14119800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:14103800-14111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:14103800-14115400	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:14104200-14115800	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:14104800-14118600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:14105200-14111400	Weak transcription	A549	lung
43	chr9:14106400-14110400	Enhancers	Fetal Heart	heart
44	chr9:14107000-14111800	Weak transcription	Fetal Stomach	stomach
45	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:14107800-14115200	Weak transcription	Small Intestine	intestine
47	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
48	chr9:14108200-14114000	Weak transcription	Right Ventricle	heart
49	chr9:14108400-14111000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:14108400-14114000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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