Variant report

Variant	rs1405781
Chromosome Location	chr3:101252103-101252104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101251684..101253784-chr3:101277583..101280668,3	K562	blood:
2	chr3:101251094..101253356-chr3:101294700..101296293,2	K562	blood:
3	chr3:101251480..101254099-chr3:101272638..101274456,2	K562	blood:
4	chr3:101249370..101250910-chr3:101251294..101253449,2	K562	blood:
5	chr3:101251061..101253475-chr3:101292374..101293886,2	K562	blood:
6	chr3:101241908..101244826-chr3:101250601..101253357,3	K562	blood:

Variant related genes	Relation type
ENSG00000242299	Chromatin interaction
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11918335	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919906	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12636505	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13347262	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880982	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976944	0.82[AMR][1000 genomes]
rs1986294	0.82[EUR][1000 genomes]
rs2449822	0.80[EUR][1000 genomes]
rs34774691	0.88[ASN][1000 genomes]
rs4260407	0.81[ASN][1000 genomes]
rs475521	0.82[EUR][1000 genomes]
rs476491	0.82[EUR][1000 genomes]
rs478173	0.80[EUR][1000 genomes]
rs482055	0.81[EUR][1000 genomes]
rs483947	0.82[EUR][1000 genomes]
rs489455	0.82[EUR][1000 genomes]
rs500480	0.81[EUR][1000 genomes]
rs501702	0.82[EUR][1000 genomes]
rs505037	0.82[EUR][1000 genomes]
rs513188	0.82[EUR][1000 genomes]
rs517698	0.82[EUR][1000 genomes]
rs520879	0.82[EUR][1000 genomes]
rs530566	0.81[EUR][1000 genomes]
rs536561	0.82[EUR][1000 genomes]
rs545322	0.82[EUR][1000 genomes]
rs546090	0.82[EUR][1000 genomes]
rs550241	0.80[EUR][1000 genomes]
rs554215	0.82[EUR][1000 genomes]
rs55633838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs559042	0.81[EUR][1000 genomes]
rs563909	0.82[EUR][1000 genomes]
rs569339	0.82[EUR][1000 genomes]
rs570318	0.82[EUR][1000 genomes]
rs571883	0.82[EUR][1000 genomes]
rs573908	0.82[EUR][1000 genomes]
rs575317	0.82[EUR][1000 genomes]
rs62280737	0.81[ASN][1000 genomes]
rs62280745	0.81[ASN][1000 genomes]
rs62280746	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62280747	0.81[ASN][1000 genomes]
rs6777720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9790303	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3463443	chr3:101251356-101254118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3463441	chr3:101251374-101254124	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3463444	chr3:101251401-101254079	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3463445	chr3:101251401-101254079	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv10386	chr3:101251512-101253932	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101249400-101252800	Enhancers	HUVEC	blood vessel
2	chr3:101249600-101254000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:101250200-101253200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:101250400-101252200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:101250400-101253000	Enhancers	NHEK	skin
6	chr3:101250600-101253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:101251000-101252400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:101251000-101252800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:101251200-101252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:101251200-101252200	Enhancers	HMEC	breast
11	chr3:101251200-101252400	Flanking Active TSS	K562	blood
12	chr3:101251400-101252200	Enhancers	Placenta	Placenta
13	chr3:101251600-101253600	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:101251800-101252800	Enhancers	Fetal Heart	heart
15	chr3:101251800-101253200	Enhancers	Colon Smooth Muscle	Colon
16	chr3:101251800-101253600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:101251800-101260800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:101252000-101252800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:101252000-101252800	Enhancers	Psoas Muscle	Psoas
20	chr3:101252000-101253200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:101252000-101253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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