Variant report

Variant	rs16903707
Chromosome Location	chr5:37724500-37724501
allele	G/T
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	EP300	chr5:37724409-37725380	SK-N-SH	brain:	n/a	n/a
2	EP300	chr5:37724430-37725349	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr5:37724332-37725350	SK-N-SH	brain:	n/a	n/a
4	EP300	chr5:37724405-37725221	SK-N-SH_RA	brain:	n/a	n/a
5	GATA3	chr5:37724346-37725304	SK-N-SH	brain:	n/a	n/a
6	FOXM1	chr5:37724422-37725103	SK-N-SH	brain:	n/a	n/a
7	EP300	chr5:37724371-37725337	SK-N-SH	brain:	n/a	n/a
8	EP300	chr5:37724466-37725132	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr5:37724425-37725239	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr5:37724478-37725285	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr5:37724379-37725388	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr5:37724333-37725307	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr5:37724318-37725778	SK-N-SH	brain:	n/a	chr5:37725699-37725708
14	FOSL2	chr5:37724369-37725294	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr5:37724376-37725474	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
WDR70	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16903702	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57810602	1.00[AMR][1000 genomes]
rs57947315	1.00[AMR][1000 genomes]
rs59785719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59975130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60584289	1.00[AMR][1000 genomes]
rs60971228	1.00[AMR][1000 genomes]
rs61573892	1.00[AMR][1000 genomes]
rs67885658	0.83[AFR][1000 genomes]
rs6862947	1.00[AMR][1000 genomes]
rs6898181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061728	1.00[AMR][1000 genomes]
rs73061742	1.00[AMR][1000 genomes]
rs73061751	1.00[AMR][1000 genomes]
rs73061771	1.00[AMR][1000 genomes]
rs73061776	1.00[AMR][1000 genomes]
rs73061780	1.00[AMR][1000 genomes]
rs73063799	1.00[AMR][1000 genomes]
rs73063800	1.00[AMR][1000 genomes]
rs73065617	1.00[AMR][1000 genomes]
rs73065632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704010	1.00[AMR][1000 genomes]
rs7724612	1.00[AMR][1000 genomes]
rs9686445	1.00[AMR][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	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
9	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
12	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
14	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
17	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
18	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain
20	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
21	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
23	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
24	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
25	chr5:37718600-37726800	Weak transcription	Liver	Liver
26	chr5:37718800-37725800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
29	chr5:37719000-37727000	Weak transcription	Fetal Lung	lung
30	chr5:37719200-37727000	Weak transcription	Fetal Intestine Large	intestine
31	chr5:37719200-37727000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:37719400-37724600	Weak transcription	HepG2	liver
33	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
34	chr5:37720000-37726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:37720400-37725600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:37720600-37725600	Enhancers	NHLF	lung
37	chr5:37720800-37730000	Strong transcription	Primary T cells from cord blood	blood
38	chr5:37721200-37728400	Strong transcription	Left Ventricle	heart
39	chr5:37721200-37730200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr5:37721200-37731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:37721200-37737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:37721600-37725200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:37721800-37726200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:37721800-37727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:37721800-37727000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:37721800-37729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:37721800-37731000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:37721800-37731200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:37722000-37725600	Enhancers	NH-A	brain

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