Variant report

Variant	rs10123886
Chromosome Location	chr9:14156362-14156363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10114590	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10114939	1.00[AMR][1000 genomes]
rs10117741	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10120754	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10122366	0.83[AMR][1000 genomes]
rs10124557	0.83[AMR][1000 genomes]
rs10125421	0.91[AMR][1000 genomes]
rs10810100	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10810101	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10961397	0.83[AMR][1000 genomes]
rs10961398	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11788568	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11789923	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12335788	0.91[AMR][1000 genomes]
rs12335815	0.91[AMR][1000 genomes]
rs12340536	0.91[AMR][1000 genomes]
rs12341599	0.91[AMR][1000 genomes]
rs12344875	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs12344913	0.91[AMR][1000 genomes]
rs12344948	0.83[AMR][1000 genomes]
rs12349598	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351537	0.92[AMR][1000 genomes]
rs16931417	0.91[AMR][1000 genomes]
rs2078463	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs7018727	0.82[AFR][1000 genomes]
rs7018963	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs7027294	0.83[AMR][1000 genomes]
rs7033653	1.00[AMR][1000 genomes]
rs7042124	0.91[AMR][1000 genomes]
rs7042142	0.91[YRI][hapmap];0.91[AMR][1000 genomes]
rs7047737	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411963	0.83[AMR][1000 genomes]
rs73645005	0.83[AMR][1000 genomes]
rs7846990	0.96[AFR][1000 genomes];1.00[AMR][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	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:67 , 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	chr9:14127000-14156400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:14131800-14173200	Weak transcription	Pancreas	Pancrea
9	chr9:14134000-14181000	Weak transcription	Ovary	ovary
10	chr9:14134200-14159400	Weak transcription	Fetal Stomach	stomach
11	chr9:14142200-14159000	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:14144000-14157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:14144400-14156400	Weak transcription	Brain Substantia Nigra	brain
14	chr9:14145000-14159400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:14146800-14159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:14147200-14156400	Weak transcription	Liver	Liver
17	chr9:14149200-14159000	Weak transcription	Osteobl	bone
18	chr9:14151800-14159000	Weak transcription	Aorta	Aorta
19	chr9:14152600-14159200	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:14153600-14156400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:14153600-14156400	Weak transcription	Psoas Muscle	Psoas
22	chr9:14153600-14156600	Weak transcription	Small Intestine	intestine
23	chr9:14153600-14156800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:14153600-14156800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:14153600-14158600	Weak transcription	NHDF-Ad	bronchial
26	chr9:14153600-14159000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:14153600-14159000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:14153600-14159600	Weak transcription	Fetal Brain Female	brain
29	chr9:14153600-14159600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr9:14153800-14156600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:14153800-14157200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:14153800-14158200	Weak transcription	A549	lung
33	chr9:14153800-14159000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:14153800-14159200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:14154200-14157200	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:14154400-14156400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:14154400-14157200	Enhancers	Fetal Heart	heart
38	chr9:14154600-14157400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:14154800-14156600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:14155000-14156400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:14155000-14156400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:14155000-14156800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:14155200-14159200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:14155200-14159200	Weak transcription	HSMM	muscle
45	chr9:14155400-14156600	Weak transcription	Fetal Brain Male	brain
46	chr9:14155400-14157400	Enhancers	Dnd41	blood
47	chr9:14155400-14159000	Weak transcription	Brain Angular Gyrus	brain
48	chr9:14155600-14156400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr9:14155600-14156600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:14155600-14156800	Weak transcription	Brain Germinal Matrix	brain

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