Variant report

Variant	rs4740699
Chromosome Location	chr9:2778867-2778868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10121371	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10122155	0.82[ASN][1000 genomes]
rs10122896	0.82[ASN][1000 genomes]
rs10125062	0.83[ASN][1000 genomes]
rs1060812	0.92[EUR][1000 genomes]
rs10738777	0.83[EUR][1000 genomes]
rs10738780	0.82[ASN][1000 genomes]
rs10757675	0.96[EUR][1000 genomes]
rs10812639	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10812641	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1454635	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168134	0.81[EUR][1000 genomes]
rs2168135	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2375860	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2889224	0.82[ASN][1000 genomes]
rs4520217	0.85[EUR][1000 genomes]
rs4623490	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4741767	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7027337	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7033566	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7035082	0.95[EUR][1000 genomes]
rs7849358	0.90[EUR][1000 genomes]
rs7850616	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7869344	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv892079	chr9:2681430-2931341	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv531565	chr9:2682523-2784028	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv516425	chr9:2690980-2790307	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv892081	chr9:2691186-2851026	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1032667	chr9:2691667-2788242	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1019973	chr9:2691812-2790419	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv539935	chr9:2691812-2790419	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv892082	chr9:2699606-2833267	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1021572	chr9:2703159-2790123	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv1033982	chr9:2724666-2780665	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv539936	chr9:2724666-2780665	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1023850	chr9:2736931-2790123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv466087	chr9:2746548-2790307	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv613142	chr9:2746548-2790307	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv1028011	chr9:2759097-2904277	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv1022873	chr9:2768825-2863264	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv968562	chr9:2772588-2780812	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	nsv1032474	chr9:2773573-2804799	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2765800-2791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:2768000-2779200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:2768200-2782600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:2768400-2783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:2770600-2789800	Weak transcription	Hela-S3	cervix
6	chr9:2770800-2779200	Strong transcription	NH-A	brain
7	chr9:2772400-2780600	Strong transcription	Osteobl	bone
8	chr9:2772600-2779200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:2772800-2779000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr9:2772800-2780400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:2772800-2780400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:2773000-2779000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:2773000-2779400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:2773200-2779200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr9:2773200-2779800	Weak transcription	K562	blood
16	chr9:2773200-2784800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:2773600-2782600	Strong transcription	HSMM	muscle
18	chr9:2773600-2787200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:2774400-2779000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr9:2774800-2780800	Weak transcription	NHLF	lung
21	chr9:2775000-2801600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:2775800-2779200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:2775800-2782600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr9:2776000-2785400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:2776200-2779400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr9:2776400-2779400	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr9:2776600-2779000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr9:2776600-2779000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:2776600-2779200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr9:2776800-2779000	Strong transcription	Brain Hippocampus Middle	brain
31	chr9:2776800-2779200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr9:2776800-2779200	Strong transcription	HUVEC	blood vessel
33	chr9:2777000-2779000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr9:2777200-2790800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr9:2777600-2779200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:2777800-2779200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:2777800-2779400	Strong transcription	NHDF-Ad	bronchial
38	chr9:2777800-2779600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr9:2777800-2781000	Weak transcription	HMEC	breast
40	chr9:2777800-2785000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr9:2777800-2787200	Weak transcription	Placenta	Placenta
42	chr9:2777800-2791600	Weak transcription	Right Ventricle	heart
43	chr9:2777800-2800000	Weak transcription	Colonic Mucosa	Colon
44	chr9:2778000-2779000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:2778000-2779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr9:2778000-2779000	Weak transcription	NHEK	skin
47	chr9:2778000-2779200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr9:2778000-2779200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr9:2778000-2779200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:2778000-2783400	Weak transcription	Fetal Stomach	stomach

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