Variant report

Variant	rs2087549
Chromosome Location	chr1:151834188-151834189
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151833646..151837340-chr1:151842785..151845741,4	MCF-7	breast:
2	chr1:151833014..151835251-chr1:151876525..151878179,2	K562	blood:
3	chr1:151810932..151814079-chr1:151832999..151835134,4	MCF-7	breast:
4	chr1:151823384..151829926-chr1:151830365..151837191,11	MCF-7	breast:
5	chr1:151831860..151834809-chr1:151847817..151849613,2	MCF-7	breast:
6	chr1:151832360..151835660-chr1:151836036..151839920,4	MCF-7	breast:
7	chr1:151832963..151834961-chr1:151847384..151848960,2	K562	blood:
8	chr1:151828500..151832022-chr1:151833324..151837098,3	K562	blood:
9	chr1:151832485..151835043-chr1:151841039..151843402,2	MCF-7	breast:
10	chr1:151834011..151835970-chr1:151846096..151847764,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225556	Chromatin interaction
ENSG00000196407	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1003107	0.90[GIH][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10158030	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1048910	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10749666	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10788813	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs10788814	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10788816	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10888449	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10888450	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10888451	0.92[AMR][1000 genomes]
rs10888453	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11204905	0.92[AMR][1000 genomes]
rs11204911	0.88[MEX][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11204912	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1352654	0.89[GIH][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1387834	0.89[MKK][hapmap]
rs1490187	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs1490191	0.81[LWK][hapmap]
rs1552606	0.90[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1873310	1.00[CEU][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1873312	0.90[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2054948	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2130526	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2171917	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2338200	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2338203	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2338204	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2999529	0.89[MKK][hapmap]
rs3007700	0.89[MKK][hapmap]
rs3748805	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3762427	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4551598	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845385	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4845388	0.90[GIH][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4845393	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4845660	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4845664	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4845699	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6587626	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6587627	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6587628	0.90[GIH][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6587629	0.90[GIH][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6587630	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6659029	0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6662463	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6678664	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6685291	0.90[GIH][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6690443	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6691350	0.90[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7529451	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7532721	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7541498	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544380	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7545863	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7552869	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs902314	0.90[GIH][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs902315	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs902316	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9943225	0.90[MEX][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3390723	chr1:151832128-151836426	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:151827600-151839800	Weak transcription	Hela-S3	cervix
5	chr1:151828200-151835400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:151828800-151837000	Weak transcription	Right Ventricle	heart
7	chr1:151829000-151845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151829400-151834200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:151830600-151834400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:151831000-151881400	Weak transcription	Ovary	ovary
11	chr1:151831200-151835000	Enhancers	Placenta	Placenta
12	chr1:151831600-151834200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151832000-151859600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:151832200-151834400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr1:151832400-151834400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr1:151832600-151834200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:151832600-151834400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr1:151832800-151834200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:151832800-151840000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:151832800-151846000	Weak transcription	Spleen	Spleen
21	chr1:151833400-151840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:151833600-151834200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:151833600-151834200	Enhancers	Brain Substantia Nigra	brain
24	chr1:151833600-151837400	Weak transcription	Fetal Thymus	thymus
25	chr1:151833800-151834200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr1:151833800-151834200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:151833800-151834400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr1:151833800-151840400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:151834000-151834600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:151834000-151849600	Weak transcription	Esophagus	oesophagus

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