Variant report

Variant	rs2207368
Chromosome Location	chr1:85847683-85847684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85846114..85848422-chr1:86044921..86046883,2	MCF-7	breast:
2	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1001604	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1006989	0.81[AFR][1000 genomes]
rs10489513	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10747318	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs10782549	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10873701	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs10873702	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs11161606	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11161607	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161610	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11161611	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146379	0.81[EUR][1000 genomes]
rs12044537	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12047422	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124170	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12125557	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140103	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357635	0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs1498373	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498375	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1523995	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1554597	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1608537	0.88[AFR][1000 genomes]
rs173026	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs18582	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1884139	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1965876	0.88[AFR][1000 genomes]
rs2011825	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012683	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016104	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs2177461	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268667	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300634	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300637	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233047	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233050	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233053	0.87[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs233054	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233055	0.81[EUR][1000 genomes]
rs233057	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233058	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233059	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233060	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233061	0.86[EUR][1000 genomes]
rs233062	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233066	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233067	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233068	0.87[EUR][1000 genomes]
rs233069	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233071	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233072	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs233074	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233091	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233093	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233095	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233097	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs233099	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233108	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233109	0.86[EUR][1000 genomes]
rs233112	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs233113	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233114	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233115	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233118	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs233119	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233120	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233121	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233124	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs233127	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233130	0.83[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233131	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233132	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233133	0.86[EUR][1000 genomes]
rs2840319	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2892888	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087894	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768227	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920521	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3949301	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423105	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4428939	0.84[AFR][1000 genomes]
rs4949890	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949900	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506082	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs600098	0.85[YRI][hapmap]
rs6420965	0.86[AFR][1000 genomes]
rs6576761	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6576763	0.87[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576764	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576765	0.87[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576766	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6576767	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659070	1.00[YRI][hapmap]
rs6657817	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671599	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6672870	0.82[YRI][hapmap]
rs66811655	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6697083	0.94[CEU][hapmap];0.94[YRI][hapmap]
rs6704103	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67611930	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724606	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724608	0.90[AFR][1000 genomes]
rs729655	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7515261	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs7539738	0.83[AFR][1000 genomes]
rs7546931	0.80[AFR][1000 genomes]
rs7547571	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761601	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997251	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
4	chr1:85841200-85859800	Weak transcription	NH-A	brain
5	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial
6	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85842600-85847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:85845000-85848000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:85845000-85852800	Strong transcription	Osteobl	bone
10	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
11	chr1:85845400-85847800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85845400-85848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:85845600-85848000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:85845800-85859800	Weak transcription	NHLF	lung
15	chr1:85846200-85848000	Weak transcription	Psoas Muscle	Psoas
16	chr1:85846200-85848200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:85846200-85852800	Strong transcription	HSMM	muscle
18	chr1:85846400-85848200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:85846400-85850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:85847200-85847800	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:85847200-85850200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:85847600-85849400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:85847600-85849600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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