Variant report

Variant	rs13340694
Chromosome Location	chr9:102691716-102691717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2031034	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34037369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676979	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712912	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35984438	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67039781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67506726	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746321	0.87[ASN][1000 genomes]
rs72746326	0.87[ASN][1000 genomes]
rs72746345	0.87[ASN][1000 genomes]
rs73501562	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7865257	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
2	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
3	chr9:102680000-102710800	Weak transcription	HUVEC	blood vessel
4	chr9:102680400-102693800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:102680400-102724800	Weak transcription	HSMM	muscle
6	chr9:102682600-102693800	Weak transcription	Osteobl	bone
7	chr9:102682600-102751400	Weak transcription	NH-A	brain
8	chr9:102682800-102695000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:102684400-102720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr9:102684600-102693600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:102685000-102698200	Weak transcription	NHEK	skin
12	chr9:102685000-102710000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:102685000-102731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr9:102685200-102730200	Weak transcription	NHLF	lung
15	chr9:102685800-102698000	Weak transcription	HMEC	breast
16	chr9:102686000-102695400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:102686000-102699400	Weak transcription	K562	blood
18	chr9:102686200-102694400	Weak transcription	Brain Substantia Nigra	brain
19	chr9:102686200-102699200	Weak transcription	Fetal Kidney	kidney
20	chr9:102686200-102699400	Weak transcription	Psoas Muscle	Psoas
21	chr9:102686200-102730000	Weak transcription	Colonic Mucosa	Colon
22	chr9:102686400-102693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:102686400-102694600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:102686400-102694600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:102686400-102699400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:102686400-102712800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:102686400-102713000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr9:102686400-102723400	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
30	chr9:102686600-102692200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:102686600-102693200	Weak transcription	Pancreas	Pancrea
32	chr9:102686600-102693800	Weak transcription	Right Ventricle	heart
33	chr9:102686600-102693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:102686600-102694000	Weak transcription	Placenta	Placenta
35	chr9:102686600-102697200	Weak transcription	Thymus	Thymus
36	chr9:102686600-102698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:102686600-102700200	Weak transcription	Aorta	Aorta
38	chr9:102686600-102713400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr9:102686600-102730800	Weak transcription	Ovary	ovary
40	chr9:102686600-102750800	Weak transcription	Gastric	stomach
41	chr9:102686800-102722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:102687200-102698600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:102687800-102722200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:102688000-102692800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr9:102688200-102692200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr9:102688200-102698000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:102688200-102699400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:102688200-102713400	Weak transcription	Dnd41	blood
49	chr9:102688400-102693600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr9:102688400-102710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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