Variant report

Variant	rs2383004
Chromosome Location	chr9:16704216-16704217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10511624	0.89[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10511625	0.94[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10733313	0.95[CEU][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10733314	0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10733315	0.90[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10733316	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10738445	0.84[CEU][hapmap];0.83[YRI][hapmap]
rs10738446	0.84[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10738447	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10738448	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10738449	1.00[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756779	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10756781	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10756782	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756783	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756784	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756785	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756786	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10756787	0.90[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10810591	0.95[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10810592	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10810593	0.89[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962542	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962546	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1337399	1.00[CEU][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1888207	0.89[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1888208	0.90[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2297174	0.95[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297176	0.89[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2383002	0.83[EUR][1000 genomes]
rs3850444	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs3850445	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3861709	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3904778	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs4111334	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4111335	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4360380	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4961732	0.90[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs4961733	0.84[EUR][1000 genomes]
rs4961734	0.90[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4961735	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4961736	0.94[CEU][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7028900	0.90[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS 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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16665000-16704400	Weak transcription	Aorta	Aorta
2	chr9:16680000-16704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:16690000-16704800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:16691000-16704800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:16691000-16708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:16693600-16704600	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:16697600-16704800	Weak transcription	Esophagus	oesophagus
8	chr9:16700800-16704800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:16701800-16705400	Weak transcription	Lung	lung
10	chr9:16702200-16707200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:16702400-16704400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:16703000-16704400	Weak transcription	Ovary	ovary
13	chr9:16703000-16705600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:16703200-16705800	Active TSS	A549	lung
15	chr9:16703400-16704600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr9:16703400-16705000	Flanking Active TSS	NH-A	brain
17	chr9:16703400-16705600	Flanking Active TSS	Osteobl	bone
18	chr9:16703600-16704600	Enhancers	Fetal Stomach	stomach
19	chr9:16703600-16705400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:16703800-16704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:16703800-16704800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:16703800-16704800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:16703800-16704800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:16703800-16704800	Active TSS	HSMM	muscle
25	chr9:16704000-16704400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:16704000-16704400	Flanking Active TSS	HUVEC	blood vessel
27	chr9:16704000-16704800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:16704000-16704800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:16704000-16704800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:16704000-16704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:16704000-16704800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr9:16704000-16705200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:16704000-16705400	Active TSS	Hela-S3	cervix
34	chr9:16704200-16704400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:16704200-16704400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr9:16704200-16704400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr9:16704200-16704400	Enhancers	Fetal Intestine Small	intestine
38	chr9:16704200-16704600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr9:16704200-16704600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr9:16704200-16704600	Flanking Active TSS	Fetal Lung	lung
41	chr9:16704200-16704600	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr9:16704200-16704600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr9:16704200-16704600	Flanking Active TSS	NHLF	lung
44	chr9:16704200-16704800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:16704200-16704800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:16704200-16704800	Active TSS	Right Atrium	heart
47	chr9:16704200-16704800	Active TSS	Stomach Smooth Muscle	stomach
48	chr9:16704200-16705200	Enhancers	Fetal Brain Male	brain
49	chr9:16704200-16705200	Active TSS	HSMMtube	muscle
50	chr9:16704200-16705400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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