Variant report

Variant	rs28438599
Chromosome Location	chr2:97486316-97486317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:97481138-97486512	HEK293-T-REx	kidney:	n/a	chr2:97486292-97486301 chr2:97484433-97484454
2	POLR2A	chr2:97486236-97486433	A549	lung:	n/a	n/a
3	POLR2A	chr2:97484555-97486755	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:97485868-97486559	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97484548..97487519-chr2:97496116..97499038,3	K562	blood:
2	chr2:97485160..97487404-chr2:97491330..97493126,2	K562	blood:
3	chr2:97481554..97483965-chr2:97485690..97489331,4	K562	blood:
4	chr2:97484849..97487237-chr2:97551281..97553107,2	MCF-7	breast:
5	chr2:97484195..97486441-chr2:97527704..97530439,2	K562	blood:
6	chr2:97484998..97487772-chr2:97534907..97536909,2	MCF-7	breast:
7	chr2:97485243..97487590-chr2:97488135..97490433,3	K562	blood:
8	chr2:97303032..97305176-chr2:97485535..97487811,2	K562	blood:

No data

Variant related genes	Relation type
CNNM3	TF binding region
ENSG00000168758	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10167376	1.00[AMR][1000 genomes]
rs10194350	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205661	1.00[AMR][1000 genomes]
rs10208112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405293	1.00[AMR][1000 genomes]
rs13419720	1.00[AMR][1000 genomes]
rs13422315	1.00[AMR][1000 genomes]
rs13422420	1.00[AMR][1000 genomes]
rs72941221	1.00[AMR][1000 genomes]
rs72941290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585764	1.00[AMR][1000 genomes]
rs7599851	1.00[AFR][1000 genomes];1.00[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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97483000-97486600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:97483000-97487600	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr2:97483000-97490800	Enhancers	Fetal Heart	heart
4	chr2:97483400-97487000	Enhancers	Left Ventricle	heart
5	chr2:97483600-97486400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:97483600-97488600	Weak transcription	Aorta	Aorta
7	chr2:97483600-97490000	Weak transcription	NH-A	brain
8	chr2:97483600-97492200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:97483600-97493400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:97483600-97493400	Weak transcription	HSMMtube	muscle
11	chr2:97483600-97498200	Weak transcription	HSMM	muscle
12	chr2:97483800-97487000	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr2:97483800-97487400	Enhancers	Fetal Brain Male	brain
14	chr2:97483800-97487400	Enhancers	Right Atrium	heart
15	chr2:97483800-97487600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:97483800-97487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:97483800-97487600	Enhancers	Stomach Mucosa	stomach
18	chr2:97483800-97488600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:97483800-97490000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr2:97483800-97492200	Weak transcription	NHLF	lung
21	chr2:97483800-97493200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:97483800-97493400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:97483800-97493600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:97483800-97494400	Weak transcription	Osteobl	bone
25	chr2:97483800-97498400	Weak transcription	NHDF-Ad	bronchial
26	chr2:97484000-97486600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:97484000-97486600	Genic enhancers	K562	blood
28	chr2:97484000-97486800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:97484000-97487400	Enhancers	Right Ventricle	heart
30	chr2:97484000-97488400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:97484000-97493200	Weak transcription	Fetal Kidney	kidney
32	chr2:97484000-97493600	Weak transcription	NHEK	skin
33	chr2:97484200-97486400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:97484200-97486600	Genic enhancers	Colon Smooth Muscle	Colon
35	chr2:97484200-97486800	Enhancers	Psoas Muscle	Psoas
36	chr2:97484200-97487200	Genic enhancers	Brain Hippocampus Middle	brain
37	chr2:97484200-97487400	Flanking Active TSS	Liver	Liver
38	chr2:97484400-97486400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:97484400-97486400	Genic enhancers	Esophagus	oesophagus
40	chr2:97484400-97486600	Genic enhancers	Lung	lung
41	chr2:97484400-97486600	Enhancers	Small Intestine	intestine
42	chr2:97484400-97486600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
43	chr2:97484400-97486800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:97484400-97487400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:97484400-97489400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr2:97484600-97486400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:97484600-97486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:97484600-97486800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:97484600-97487200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
50	chr2:97484600-97487400	Genic enhancers	Spleen	Spleen

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