Variant report

Variant	rs3981233
Chromosome Location	chr10:118762120-118762121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118607533..118609886-chr10:118761631..118763740,2	MCF-7	breast:
2	chr10:118754411..118757627-chr10:118759486..118762210,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188316	Chromatin interaction
ENSG00000225302	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10749232	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10787733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10787734	1.00[CHB][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10787755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10886018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11197905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1898345	1.00[ASN][1000 genomes]
rs1905537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2083023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2429364	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449807	1.00[ASW][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2531691	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2576438	1.00[ASN][1000 genomes]
rs2627192	0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2627193	0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2901108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4103264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752022	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs4752023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4752029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6585423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7076113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7079998	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7085068	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7091456	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7093852	0.88[AFR][1000 genomes]
rs7101129	1.00[ASN][1000 genomes]
rs7903166	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7903949	1.00[ASN][1000 genomes]
rs7904342	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7906476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7919600	0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755506	chr10:118748764-118800107	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118721600-118764000	Weak transcription	Ovary	ovary
2	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:118735000-118762800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:118737200-118762800	Weak transcription	NHEK	skin
5	chr10:118738800-118762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:118747400-118763000	Weak transcription	HUVEC	blood vessel
7	chr10:118750200-118764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:118751600-118763800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:118752400-118763600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:118752400-118764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:118755600-118763800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:118756800-118763200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:118756800-118763600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:118757200-118763600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:118757400-118762800	Weak transcription	Fetal Intestine Large	intestine
16	chr10:118759000-118763600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:118760000-118763600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:118760000-118763800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:118760200-118763600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:118760400-118762200	Enhancers	Fetal Brain Male	brain
21	chr10:118760400-118762800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr10:118760400-118765200	Active TSS	Brain Cingulate Gyrus	brain
23	chr10:118760600-118762800	Weak transcription	Pancreas	Pancrea
24	chr10:118760800-118763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:118760800-118765200	Active TSS	Brain Anterior Caudate	brain
26	chr10:118761000-118762800	Enhancers	HepG2	liver
27	chr10:118761000-118765200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr10:118761000-118765200	Active TSS	Brain Substantia Nigra	brain
29	chr10:118761400-118762800	Enhancers	Liver	Liver
30	chr10:118761400-118762800	Enhancers	A549	lung
31	chr10:118761400-118762800	Enhancers	Hela-S3	cervix
32	chr10:118761400-118765600	Active TSS	Brain Angular Gyrus	brain
33	chr10:118761600-118763800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:118762000-118762200	Active TSS	Fetal Brain Female	brain
35	chr10:118762000-118762800	Weak transcription	K562	blood
36	chr10:118762000-118763000	Active TSS	Brain Germinal Matrix	brain
37	chr10:118762000-118765200	Active TSS	Brain Hippocampus Middle	brain

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