Variant report

Variant	rs12001605
Chromosome Location	chr9:14681802-14681803
allele	C/T
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:28)

rs_ID	r²[population]
rs10115764	1.00[AMR][1000 genomes]
rs12000057	1.00[AMR][1000 genomes]
rs12000992	0.92[YRI][hapmap]
rs12001201	0.92[YRI][hapmap]
rs12003860	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12006154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12006436	0.92[YRI][hapmap]
rs1389734	1.00[AMR][1000 genomes]
rs1389736	1.00[AMR][1000 genomes]
rs1389737	1.00[AMR][1000 genomes]
rs1494347	1.00[AMR][1000 genomes]
rs1494352	1.00[AMR][1000 genomes]
rs1494355	1.00[AMR][1000 genomes]
rs1542793	1.00[AMR][1000 genomes]
rs16932123	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2201379	1.00[AMR][1000 genomes]
rs4601430	1.00[AMR][1000 genomes]
rs4741432	1.00[AMR][1000 genomes]
rs60264212	1.00[AMR][1000 genomes]
rs61745880	1.00[AMR][1000 genomes]
rs6474857	1.00[AMR][1000 genomes]
rs7018782	1.00[AMR][1000 genomes]
rs7032648	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7038300	1.00[AMR][1000 genomes]
rs73641954	1.00[AMR][1000 genomes]
rs7849273	0.91[YRI][hapmap]
rs7850179	0.92[YRI][hapmap]
rs7871407	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv521363	chr9:14566406-14691897	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892608	chr9:14589173-14689088	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised 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	1 gene(s)	inside rSNPs	diseases
14	nsv613644	chr9:14662171-14689594	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv6482	chr9:14673695-14718568	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:14634600-14692400	Weak transcription	Gastric	stomach
4	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
5	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
7	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
8	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
9	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
10	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
13	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
14	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:14655400-14691400	Weak transcription	A549	lung
16	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
19	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
21	chr9:14655800-14686200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr9:14655800-14686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose
26	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
28	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
29	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:14657200-14686600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr9:14657400-14686400	Weak transcription	Fetal Intestine Small	intestine
32	chr9:14658400-14685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:14658600-14688800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:14659000-14686200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:14659200-14686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:14659600-14685800	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
38	chr9:14660000-14686600	Weak transcription	Fetal Stomach	stomach
39	chr9:14660200-14691000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:14663000-14686200	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:14663200-14689400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:14663400-14686600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:14663400-14692000	Weak transcription	Brain Substantia Nigra	brain
44	chr9:14668600-14689400	Weak transcription	Fetal Thymus	thymus
45	chr9:14669200-14686600	Weak transcription	NH-A	brain
46	chr9:14669800-14687200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:14670400-14686400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:14670800-14686200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr9:14670800-14686400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr9:14670800-14692200	Weak transcription	NHLF	lung

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