Variant report

Variant	rs2348046
Chromosome Location	chr7:7479370-7479371
allele	C/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	TCF12	chr7:7478289-7479676	SK-N-SH	brain:	n/a	n/a
2	JUND	chr7:7478431-7479705	SK-N-SH	brain:	n/a	chr7:7478705-7478716 chr7:7479632-7479644 chr7:7478707-7478715 chr7:7478705-7478716

Variant related genes	Relation type
COL28A1	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10085830	0.81[JPT][hapmap]
rs10225403	0.81[JPT][hapmap]
rs10234554	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10235363	0.85[CEU][hapmap]
rs10235505	0.85[CEU][hapmap]
rs10236946	0.81[JPT][hapmap]
rs10246954	0.81[JPT][hapmap]
rs1024715	0.85[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10263223	0.80[JPT][hapmap]
rs10280546	0.91[JPT][hapmap]
rs11772657	0.90[JPT][hapmap]
rs11982762	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12671912	0.90[ASN][1000 genomes]
rs1294598	0.81[JPT][hapmap]
rs1297791	0.85[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16878052	0.81[JPT][hapmap]
rs17167804	0.81[JPT][hapmap]
rs17167922	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17168217	0.91[JPT][hapmap]
rs17168290	0.90[JPT][hapmap]
rs1860724	0.85[CEU][hapmap]
rs28522448	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4455736	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55745506	0.93[ASN][1000 genomes]
rs55954412	0.93[ASN][1000 genomes]
rs56058922	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56913410	0.89[ASN][1000 genomes]
rs58115252	0.93[ASN][1000 genomes]
rs61404535	0.93[ASN][1000 genomes]
rs6463692	0.91[JPT][hapmap]
rs6463694	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6463695	0.93[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6946064	0.91[JPT][hapmap]
rs6946913	0.90[JPT][hapmap]
rs6947175	0.91[JPT][hapmap]
rs6948300	0.81[JPT][hapmap]
rs6950825	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6952195	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs6954909	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6957099	0.81[JPT][hapmap]
rs6957880	0.90[JPT][hapmap]
rs6967835	1.00[JPT][hapmap]
rs6972069	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs725934	1.00[JPT][hapmap]
rs7459128	0.81[JPT][hapmap]
rs7789262	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800860	1.00[JPT][hapmap]
rs929378	0.81[JPT][hapmap]
rs929379	0.91[JPT][hapmap]
rs972766	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	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
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised 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	33 gene(s)	inside rSNPs	diseases
11	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
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv606043	chr7:7473563-7571420	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7464600-7480200	Weak transcription	Aorta	Aorta
2	chr7:7468400-7484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:7474400-7483200	Weak transcription	Fetal Kidney	kidney
4	chr7:7477000-7480000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:7477000-7480200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:7477400-7479800	Enhancers	NHEK	skin
7	chr7:7477600-7479600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:7477600-7480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:7477800-7480000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:7478000-7479600	Enhancers	HSMM	muscle
11	chr7:7478000-7479600	Enhancers	HUVEC	blood vessel
12	chr7:7478000-7479800	Enhancers	HMEC	breast
13	chr7:7478000-7479800	Enhancers	NHLF	lung
14	chr7:7478000-7479800	Enhancers	Osteobl	bone
15	chr7:7478000-7480000	Enhancers	NHDF-Ad	bronchial
16	chr7:7478200-7479400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:7478400-7479600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:7478400-7479600	Enhancers	NH-A	brain
19	chr7:7478800-7479400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:7478800-7479600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:7478800-7480200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:7479000-7482800	Weak transcription	Fetal Stomach	stomach
23	chr7:7479000-7483200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:7479000-7484600	Weak transcription	Pancreas	Pancrea
25	chr7:7479200-7479600	Enhancers	A549	lung
26	chr7:7479200-7479800	Enhancers	Pancreatic Islets	Pancreatic Islet

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