Variant report

Variant	rs61814883
Chromosome Location	chr1:151970629-151970630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:151970551-151971953	MCF-7	breast:	n/a	n/a
2	FOSL2	chr1:151970596-151971930	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:
2	chr1:151880282..151883329-chr1:151968741..151971419,4	MCF-7	breast:
3	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
4	chr1:151905903..151909731-chr1:151970506..151972835,3	MCF-7	breast:
5	chr1:151969792..151972069-chr1:152018129..152020747,2	K562	blood:
6	chr1:151803574..151806321-chr1:151969156..151972059,2	MCF-7	breast:
7	chr1:151859844..151863422-chr1:151970039..151972808,5	MCF-7	breast:

No data

Variant related genes	Relation type
S100A10	TF binding region
ENSG00000159445	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10494270	0.83[AMR][1000 genomes]
rs11204919	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11204920	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11582739	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12083193	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12095483	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12239945	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566232	0.82[AMR][1000 genomes]
rs16833668	0.85[ASN][1000 genomes]
rs16833669	0.85[ASN][1000 genomes]
rs16833670	0.85[ASN][1000 genomes]
rs16833728	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16833743	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1844543	0.83[AMR][1000 genomes]
rs2012674	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2337685	0.85[ASN][1000 genomes]
rs2337686	0.85[ASN][1000 genomes]
rs2338206	0.85[AMR][1000 genomes]
rs2932580	0.89[ASN][1000 genomes]
rs3791153	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845719	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56000812	0.83[AMR][1000 genomes]
rs56028913	0.80[AMR][1000 genomes]
rs56078223	0.83[AMR][1000 genomes]
rs56170235	0.85[AMR][1000 genomes]
rs56313205	0.86[AMR][1000 genomes]
rs57674198	0.85[AMR][1000 genomes]
rs57785325	0.85[ASN][1000 genomes]
rs61814891	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61817695	0.85[AMR][1000 genomes]
rs61817697	0.85[AMR][1000 genomes]
rs61817719	0.83[AMR][1000 genomes]
rs61817720	0.83[AMR][1000 genomes]
rs61817722	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61817723	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61817724	0.85[ASN][1000 genomes]
rs61817725	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6587632	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6587633	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6587634	0.84[ASN][1000 genomes]
rs6587635	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6587636	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6587637	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6587638	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6587640	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587643	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6587644	0.88[EUR][1000 genomes]
rs6657658	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6659662	0.85[AMR][1000 genomes]
rs6662602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6662611	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6662728	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6663064	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672064	0.85[AMR][1000 genomes]
rs6675930	0.85[ASN][1000 genomes]
rs6677973	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6678672	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682605	0.85[ASN][1000 genomes]
rs6684114	0.85[ASN][1000 genomes]
rs6684312	0.80[AMR][1000 genomes]
rs6686874	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6690449	0.80[AMR][1000 genomes]
rs6693388	0.85[ASN][1000 genomes]
rs6693396	0.83[ASN][1000 genomes]
rs6693901	0.85[ASN][1000 genomes]
rs6695324	0.85[ASN][1000 genomes]
rs6701374	0.83[AMR][1000 genomes]
rs6703448	0.83[AMR][1000 genomes]
rs6703465	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72694840	0.83[AMR][1000 genomes]
rs7535002	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7538652	0.84[ASN][1000 genomes]
rs7541099	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7554832	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7554859	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs902313	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs971887	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9943221	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9943251	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61814883	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs61814883	NBPF18P	cis	Nerve Tibial	GTEx
rs61814883	THEM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151966800-151976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151967000-151973000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151967000-151977000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:151967200-151973200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:151967200-151974000	Enhancers	HMEC	breast
6	chr1:151967200-151977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:151967800-151971000	Weak transcription	Stomach Mucosa	stomach
8	chr1:151967800-151973600	Enhancers	NHEK	skin
9	chr1:151967800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:151967800-151977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:151968000-151971600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:151968000-151973000	Weak transcription	Adipose Nuclei	Adipose
13	chr1:151968200-151970800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:151968200-151971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:151968200-151971200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:151968200-151971400	Weak transcription	NH-A	brain
17	chr1:151968200-151973000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:151968200-151973200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:151968200-151973400	Weak transcription	HepG2	liver
20	chr1:151968200-151973400	Weak transcription	Osteobl	bone
21	chr1:151968200-151973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:151968400-151972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:151968600-151971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:151968600-151973600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:151968600-151973600	Weak transcription	HSMM	muscle
26	chr1:151968800-151971600	Enhancers	A549	lung
27	chr1:151968800-151973800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:151969400-151971000	Weak transcription	Fetal Intestine Large	intestine
29	chr1:151969400-151971400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:151969400-151971800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:151969400-151973800	Weak transcription	Placenta	Placenta
32	chr1:151969800-151971400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:151970200-151972000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:151970200-151972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:151970200-151973000	Weak transcription	NHDF-Ad	bronchial
36	chr1:151970600-151970800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:151970600-151970800	Enhancers	Esophagus	oesophagus
38	chr1:151970600-151972800	Enhancers	Hela-S3	cervix

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