Variant report

Variant	rs10279319
Chromosome Location	chr7:6772273-6772274
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	FOS	chr7:6772070-6772278	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:6772260-6772468	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PMS2CL	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10215807	0.85[ASN][1000 genomes]
rs10244591	0.81[ASN][1000 genomes]
rs10272921	0.84[ASN][1000 genomes]
rs10441131	0.87[ASN][1000 genomes]
rs11770065	0.85[ASN][1000 genomes]
rs11974158	0.83[ASN][1000 genomes]
rs11980762	0.83[ASN][1000 genomes]
rs12113879	0.81[ASN][1000 genomes]
rs28649084	0.81[ASN][1000 genomes]
rs35644498	0.84[ASN][1000 genomes]
rs35768299	0.84[ASN][1000 genomes]
rs62439703	0.81[ASN][1000 genomes]
rs62439704	0.81[ASN][1000 genomes]
rs62439719	0.81[ASN][1000 genomes]
rs62439720	0.80[ASN][1000 genomes]
rs62439721	0.81[ASN][1000 genomes]
rs62439728	0.89[ASN][1000 genomes]
rs62439731	0.88[ASN][1000 genomes]
rs6463579	0.82[ASN][1000 genomes]
rs6463580	0.82[ASN][1000 genomes]
rs6943677	0.83[ASN][1000 genomes]
rs6944332	0.83[ASN][1000 genomes]
rs6948965	0.81[ASN][1000 genomes]
rs6953825	0.82[ASN][1000 genomes]
rs6954012	0.82[ASN][1000 genomes]
rs6954172	0.82[ASN][1000 genomes]
rs6958648	0.83[ASN][1000 genomes]
rs6968879	0.83[ASN][1000 genomes]
rs6971324	0.83[ASN][1000 genomes]
rs6971979	0.83[ASN][1000 genomes]
rs6975002	0.81[ASN][1000 genomes]
rs6979127	0.81[ASN][1000 genomes]
rs6979158	0.82[ASN][1000 genomes]
rs7784521	0.82[ASN][1000 genomes]
rs7792579	0.81[ASN][1000 genomes]
rs7792858	0.81[ASN][1000 genomes]
rs7796846	0.82[ASN][1000 genomes]
rs7799134	0.83[ASN][1000 genomes]

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	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases
3	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
2	chr7:6770200-6775600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:6770200-6779000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6770200-6779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6770200-6782600	Weak transcription	Small Intestine	intestine
6	chr7:6770400-6772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:6770400-6772400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:6770400-6772400	Weak transcription	Ovary	ovary
9	chr7:6770400-6776800	Weak transcription	Pancreas	Pancrea
10	chr7:6770400-6777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:6770400-6778400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:6770400-6784800	Weak transcription	NHLF	lung
13	chr7:6770800-6772400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:6770800-6772400	Weak transcription	Fetal Brain Female	brain
15	chr7:6770800-6772400	Weak transcription	Gastric	stomach
16	chr7:6770800-6772600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:6770800-6772600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:6770800-6772600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:6770800-6773200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:6770800-6774400	Weak transcription	Esophagus	oesophagus
21	chr7:6770800-6774800	Weak transcription	Fetal Kidney	kidney
22	chr7:6770800-6776000	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:6770800-6776800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:6770800-6777800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
26	chr7:6771000-6772400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:6771000-6772400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:6771000-6772400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:6771000-6772400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:6771000-6772400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:6771000-6772400	Weak transcription	Hela-S3	cervix
32	chr7:6771000-6772400	Weak transcription	NH-A	brain
33	chr7:6771000-6772600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:6771000-6772600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:6771000-6773200	Weak transcription	Right Ventricle	heart
36	chr7:6771000-6774800	Weak transcription	Psoas Muscle	Psoas
37	chr7:6771000-6774800	Weak transcription	HMEC	breast
38	chr7:6771000-6775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:6771000-6776800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:6771000-6776800	Weak transcription	NHDF-Ad	bronchial
41	chr7:6771000-6778200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:6771000-6778800	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:6771000-6782000	Strong transcription	Fetal Stomach	stomach
44	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
45	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
46	chr7:6771200-6772400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:6771200-6772400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:6771200-6772400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:6771200-6772400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:6771200-6772400	Weak transcription	GM12878-XiMat	blood

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