Variant report

Variant	rs9935497
Chromosome Location	chr16:46664160-46664161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:46663096-46664179	A549	lung:	n/a	chr16:46663446-46663459 chr16:46663445-46663466 chr16:46663444-46663460 chr16:46663448-46663456 chr16:46663443-46663461
2	FOXA2	chr16:46664064-46664354	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46651769..46655217-chr16:46661271..46664188,4	K562	blood:
2	chr16:46663477..46665810-chr16:46674721..46676333,2	K562	blood:

Variant related genes	Relation type
RAB43P1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1054722	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532752	0.82[YRI][hapmap]
rs1992076	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2878049	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4405571	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4966532	0.82[YRI][hapmap]
rs4967156	0.82[YRI][hapmap]
rs4967247	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs700578	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8052092	0.82[YRI][hapmap]
rs9673514	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv917899	chr16:46463769-46669332	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	esv1815153	chr16:46474763-46672206	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
9	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
13	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv833216	chr16:46501297-46671860	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
16	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	esv3410057	chr16:46663476-46666024	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	esv3433709	chr16:46663751-46665949	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46672600	Weak transcription	Esophagus	oesophagus
2	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
3	chr16:46659200-46672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:46662800-46664200	Enhancers	K562	blood
5	chr16:46663000-46664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr16:46663000-46664400	Flanking Active TSS	HepG2	liver
7	chr16:46663000-46666800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr16:46663200-46664200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:46663200-46664200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:46663200-46664200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr16:46663200-46664200	Enhancers	Fetal Lung	lung
12	chr16:46663200-46664200	Enhancers	Fetal Stomach	stomach
13	chr16:46663200-46664400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr16:46663400-46664200	Enhancers	HSMMtube	muscle
15	chr16:46663600-46664200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:46663600-46664200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:46663600-46664200	Enhancers	Fetal Muscle Leg	muscle
18	chr16:46663600-46664400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr16:46663600-46664400	Enhancers	NHDF-Ad	bronchial
20	chr16:46663600-46666600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:46663600-46667200	Weak transcription	Fetal Brain Female	brain
22	chr16:46663800-46664200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:46663800-46664200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:46663800-46664200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:46663800-46664200	Enhancers	Brain Substantia Nigra	brain
26	chr16:46663800-46664200	Enhancers	Placenta	Placenta
27	chr16:46663800-46664200	Enhancers	HSMM	muscle
28	chr16:46663800-46664200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr16:46663800-46664200	Flanking Active TSS	NHLF	lung
30	chr16:46663800-46664200	Enhancers	Osteobl	bone
31	chr16:46663800-46665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:46663800-46666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:46664000-46664200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:46664000-46664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:46664000-46664200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:46664000-46665600	Weak transcription	GM12878-XiMat	blood
37	chr16:46664000-46666200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:46664000-46666400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr16:46664000-46666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:46664000-46666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:46664000-46666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:46664000-46666800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:46664000-46668600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:46664000-46682800	Weak transcription	Stomach Smooth Muscle	stomach

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