Variant report

Variant	rs2348337
Chromosome Location	chr7:7611330-7611331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7606446..7610698-chr7:7610910..7617094,11	MCF-7	breast:
2	chr7:7610480..7614145-chr7:7617850..7622479,5	K562	blood:
3	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272732	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000272894	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10236767	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10952061	0.88[EUR][1000 genomes]
rs11767285	0.82[EUR][1000 genomes]
rs11771272	0.84[EUR][1000 genomes]
rs12530635	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12532693	0.82[EUR][1000 genomes]
rs12533006	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13244586	0.82[EUR][1000 genomes]
rs1544465	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1544466	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1968081	0.92[AFR][1000 genomes]
rs1971649	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2108069	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2348338	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3807856	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3815229	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823842	0.87[EUR][1000 genomes]
rs4720740	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943655	0.84[EUR][1000 genomes]
rs6966277	0.83[ASN][1000 genomes]
rs6968507	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6973736	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6977450	0.84[EUR][1000 genomes]
rs6977577	0.84[EUR][1000 genomes]
rs6977800	0.84[EUR][1000 genomes]
rs7459399	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7779415	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784747	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7794706	0.83[ASN][1000 genomes]
rs7796700	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7803888	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active 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	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription 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	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription 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	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2348337	COL28A1	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7612400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
4	chr7:7607400-7648200	Weak transcription	Lung	lung
5	chr7:7607600-7612000	Weak transcription	Ovary	ovary
6	chr7:7607600-7612200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:7607600-7613400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:7607800-7621400	Weak transcription	Aorta	Aorta
11	chr7:7608000-7612800	Weak transcription	HSMMtube	muscle
12	chr7:7608200-7612200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:7608200-7612400	Weak transcription	Fetal Intestine Large	intestine
14	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:7608400-7611600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:7608400-7648600	Weak transcription	NH-A	brain
18	chr7:7608600-7612200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:7608600-7612200	Weak transcription	HMEC	breast
20	chr7:7608600-7612400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:7608800-7620600	Weak transcription	Fetal Stomach	stomach
22	chr7:7608800-7621200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:7608800-7622200	Weak transcription	HUVEC	blood vessel
24	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:7609000-7611400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:7609000-7612000	Weak transcription	Placenta	Placenta
27	chr7:7609000-7612200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:7609000-7612400	Weak transcription	Fetal Brain Female	brain
29	chr7:7609000-7621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:7609000-7621200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:7609200-7612400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:7609200-7613200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:7609200-7613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:7609400-7612200	Weak transcription	Thymus	Thymus
35	chr7:7609400-7612400	Weak transcription	Small Intestine	intestine
36	chr7:7609400-7612400	Weak transcription	NHDF-Ad	bronchial
37	chr7:7609400-7612600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:7609400-7621000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:7609400-7621000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
41	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
42	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:7609600-7612000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:7609600-7612000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:7609600-7612000	Weak transcription	Fetal Kidney	kidney
48	chr7:7609600-7612200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:7609600-7612200	Weak transcription	Adipose Nuclei	Adipose
50	chr7:7609600-7612200	Weak transcription	Liver	Liver

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