Variant report

Variant	rs4743854
Chromosome Location	chr9:94565289-94565290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
2	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10820904	1.00[CEU][hapmap]
rs10992114	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992115	1.00[CEU][hapmap]
rs10992116	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10992117	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10992118	1.00[CEU][hapmap]
rs10992119	1.00[CEU][hapmap]
rs10992120	1.00[CEU][hapmap]
rs10992121	1.00[CEU][hapmap]
rs12336034	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs12683746	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907793	1.00[CEU][hapmap]
rs16907798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103301	1.00[CEU][hapmap];0.90[AMR][1000 genomes]
rs35357880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3802380	0.90[AMR][1000 genomes]
rs4743852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744102	0.90[AMR][1000 genomes]
rs4744103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744104	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59394284	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73513266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855006	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855609	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858240	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs7861514	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7864140	0.94[YRI][hapmap]
rs7867961	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7872107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872492	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299398	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv523940	chr9:94546564-94573753	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv518372	chr9:94558126-94605908	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3483146	chr9:94563164-94566274	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3483147	chr9:94563359-94566128	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3483148	chr9:94563359-94566128	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv15414	chr9:94563381-94566086	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:94560800-94568000	Enhancers	Rectal Smooth Muscle	rectum
3	chr9:94561000-94567600	Enhancers	Ovary	ovary
4	chr9:94561000-94567800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr9:94561400-94567400	Enhancers	Fetal Lung	lung
6	chr9:94561600-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:94561800-94566000	Weak transcription	Colonic Mucosa	Colon
8	chr9:94561800-94566600	Weak transcription	Spleen	Spleen
9	chr9:94562000-94565400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:94562000-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:94562000-94567400	Weak transcription	Esophagus	oesophagus
12	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:94562000-94579400	Weak transcription	Gastric	stomach
14	chr9:94562200-94567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:94563400-94565400	Weak transcription	K562	blood
16	chr9:94563400-94566400	Weak transcription	Right Atrium	heart
17	chr9:94564000-94566000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr9:94564600-94565400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:94564600-94566600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:94564600-94566600	Enhancers	NHLF	lung
21	chr9:94564600-94567000	Enhancers	NHDF-Ad	bronchial
22	chr9:94564600-94567600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:94564600-94567800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:94564600-94568000	Enhancers	Fetal Stomach	stomach
25	chr9:94564800-94565400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr9:94564800-94565400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr9:94564800-94566400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:94564800-94566600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:94564800-94566800	Enhancers	HSMMtube	muscle
30	chr9:94564800-94567200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:94565000-94565400	Enhancers	Fetal Intestine Large	intestine
32	chr9:94565000-94566600	Enhancers	HSMM	muscle
33	chr9:94565000-94567000	Enhancers	Adipose Nuclei	Adipose
34	chr9:94565000-94568600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:94565200-94565400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:94565200-94565400	Enhancers	Placenta	Placenta
37	chr9:94565200-94565400	Flanking Bivalent TSS/Enh	Osteobl	bone
38	chr9:94565200-94566000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:94565200-94566200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:94565200-94568000	Enhancers	Fetal Muscle Leg	muscle
41	chr9:94565200-94568600	Enhancers	Fetal Heart	heart
42	chr9:94565200-94571800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94565200-94573000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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