Variant report

Variant	rs1368605
Chromosome Location	chr8:122177081-122177082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:122176632..122180030-chr8:122186675..122188884,3	MCF-7	breast:
2	chr8:122162088..122164640-chr8:122176142..122178606,2	MCF-7	breast:
3	chr8:122176462..122178583-chr8:122198285..122200494,2	MCF-7	breast:
4	chr8:122157710..122159249-chr8:122176897..122178644,2	MCF-7	breast:
5	chr8:121999522..122002650-chr8:122176393..122179691,3	MCF-7	breast:
6	chr8:122166497..122169768-chr8:122175078..122179332,4	MCF-7	breast:
7	chr8:122162859..122163519-chr8:122176992..122178099,4	MCF-7	breast:
8	chr8:122162835..122163572-chr8:122176931..122177651,3	MCF-7	breast:
9	chr8:122175923..122179015-chr8:122179931..122183812,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221644	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10100190	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10101113	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109367	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10109502	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109711	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110256	0.98[EUR][1000 genomes]
rs10956005	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11997916	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547780	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681217	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681237	0.94[ASN][1000 genomes]
rs12682637	0.94[ASN][1000 genomes]
rs13252222	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13262055	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1368594	0.99[ASN][1000 genomes]
rs1368595	0.97[ASN][1000 genomes]
rs1433392	0.98[ASN][1000 genomes]
rs1504638	0.93[ASN][1000 genomes]
rs1821323	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1836070	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2082534	0.98[ASN][1000 genomes]
rs2134932	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2134933	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202382	0.98[ASN][1000 genomes]
rs2202383	0.98[ASN][1000 genomes]
rs2386265	0.98[ASN][1000 genomes]
rs2386266	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28738104	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891977	1.00[ASN][1000 genomes]
rs34173371	0.94[ASN][1000 genomes]
rs35517836	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35627384	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4145811	1.00[ASN][1000 genomes]
rs4282580	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424262	0.97[ASN][1000 genomes]
rs4560798	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4610754	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870759	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870760	0.98[ASN][1000 genomes]
rs4870761	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871163	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871164	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871165	0.94[ASN][1000 genomes]
rs4871166	0.98[ASN][1000 genomes]
rs4871167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871169	0.98[ASN][1000 genomes]
rs61074667	0.97[ASN][1000 genomes]
rs6469994	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6997513	1.00[ASN][1000 genomes]
rs7016750	1.00[ASN][1000 genomes]
rs7016899	1.00[ASN][1000 genomes]
rs7017023	1.00[ASN][1000 genomes]
rs7017048	1.00[ASN][1000 genomes]
rs7357563	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1021839	chr8:122173682-122240824	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1368605	DSCC1	cis	parietal	SCAN
rs1368605	SAMD12	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122173200-122177200	Enhancers	NHDF-Ad	bronchial
2	chr8:122174200-122177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:122174200-122177800	Enhancers	HMEC	breast
4	chr8:122174400-122177400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:122174400-122177800	Enhancers	NH-A	brain
6	chr8:122174400-122178800	Enhancers	Fetal Lung	lung
7	chr8:122174600-122177600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:122174600-122177800	Enhancers	HSMMtube	muscle
9	chr8:122174800-122177600	Weak transcription	HUVEC	blood vessel
10	chr8:122175400-122177200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:122175400-122177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:122175400-122178800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:122175800-122177200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:122175800-122177200	Enhancers	Adipose Nuclei	Adipose
15	chr8:122175800-122177200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:122175800-122177800	Enhancers	Placenta	Placenta
17	chr8:122175800-122177800	Enhancers	NHLF	lung
18	chr8:122175800-122178000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:122175800-122178000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:122176000-122177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:122176200-122178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:122176200-122178200	Enhancers	Stomach Mucosa	stomach
23	chr8:122176400-122177400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:122176400-122178000	Enhancers	HSMM	muscle
25	chr8:122176600-122177800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:122176600-122178400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:122176800-122177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:122176800-122177200	Bivalent Enhancer	HepG2	liver
29	chr8:122176800-122177400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:122176800-122177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:122176800-122177800	Weak transcription	Fetal Intestine Large	intestine
32	chr8:122176800-122178800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:122176800-122179200	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:122176800-122184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:122177000-122177200	Enhancers	Osteobl	bone
36	chr8:122177000-122177400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:122177000-122178000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:122177000-122178000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:122177000-122178000	Enhancers	Fetal Intestine Small	intestine
40	chr8:122177000-122178600	Enhancers	Hela-S3	cervix

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