Variant report

Variant	rs4851207
Chromosome Location	chr2:100105775-100105776
allele	G/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
2	chr2:99485026..99487433-chr2:100105196..100107704,3	MCF-7	breast:
3	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
4	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
5	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
6	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
7	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
8	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:
9	chr2:100104879..100106389-chr2:100120710..100122893,2	MCF-7	breast:
10	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
11	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
12	chr2:100019850..100022413-chr2:100104870..100107869,3	MCF-7	breast:
13	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000196872	Chromatin interaction
ENSG00000170500	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10496336	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11885942	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11887935	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11896520	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12466114	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12474305	0.85[EUR][1000 genomes]
rs12479064	0.87[ASN][1000 genomes]
rs1823569	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2141907	0.82[EUR][1000 genomes]
rs2305352	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309618	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28369945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28382977	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3087403	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3792143	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3792150	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4341989	0.85[EUR][1000 genomes]
rs4851203	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4851210	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61436115	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62153852	0.81[EUR][1000 genomes]
rs62155807	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6714650	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748200	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737094	0.93[AMR][1000 genomes];0.97[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3457028	chr2:100101720-100107018	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3487602	chr2:100102570-100106918	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv3457027	chr2:100103045-100105893	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1843390	chr2:100103740-100106224	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv1809009	chr2:100103752-100109251	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv582524	chr2:100103752-100110353	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3354592	chr2:100104020-100108718	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv3446078	chr2:100104120-100107168	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4851207	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs4851207	LYG1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100103600-100107400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:100103800-100107000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:100104400-100107000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:100104600-100105800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:100104600-100107000	Active TSS	GM12878-XiMat	blood
6	chr2:100104600-100107200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:100104600-100107400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:100104600-100107400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:100104800-100105800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr2:100104800-100106200	Active TSS	Right Atrium	heart
11	chr2:100104800-100107000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:100104800-100107000	Active TSS	Fetal Thymus	thymus
13	chr2:100104800-100107000	Active TSS	HMEC	breast
14	chr2:100104800-100107000	Active TSS	NHEK	skin
15	chr2:100104800-100107400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:100104800-100107400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr2:100104800-100107400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:100104800-100107600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:100105000-100105800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:100105000-100105800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:100105000-100105800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:100105000-100105800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:100105000-100105800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr2:100105000-100105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:100105000-100106000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:100105000-100106000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr2:100105000-100106000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:100105000-100107000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:100105000-100107000	Active TSS	Fetal Intestine Small	intestine
30	chr2:100105000-100107000	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:100105000-100107000	Active TSS	NH-A	brain
32	chr2:100105000-100107200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:100105000-100107200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:100105000-100107200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:100105000-100107200	Active TSS	K562	blood
36	chr2:100105000-100107400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:100105000-100107400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:100105000-100107400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:100105000-100107400	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:100105000-100107400	Bivalent/Poised TSS	HepG2	liver
41	chr2:100105000-100107600	Active TSS	A549	lung
42	chr2:100105000-100107600	Active TSS	HSMMtube	muscle
43	chr2:100105200-100105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr2:100105200-100106000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:100105200-100106000	Active TSS	Placenta	Placenta
46	chr2:100105200-100106800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:100105200-100107000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:100105200-100107000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:100105200-100107000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:100105200-100107000	Active TSS	Muscle Satellite Cultured Cells	--

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