Variant report

Variant	rs2892888
Chromosome Location	chr1:85866147-85866148
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	chr1:85863358..85866240-chr1:85910699..85913658,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1001604	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10489513	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11161606	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11161607	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11161610	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11161611	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146379	0.83[EUR][1000 genomes]
rs12044537	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12047422	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12124170	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12125557	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12140103	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498373	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498375	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1554597	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs173026	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs18582	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1884139	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011825	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2012683	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2037594	0.83[AFR][1000 genomes]
rs2177461	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207368	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268667	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300634	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300637	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233047	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233050	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233053	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs233054	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs233057	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233058	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233059	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233060	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233061	0.83[EUR][1000 genomes]
rs233062	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233066	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233067	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233068	0.84[EUR][1000 genomes]
rs233069	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233071	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233072	0.84[EUR][1000 genomes]
rs233074	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233091	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233093	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233095	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233097	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs233099	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233108	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233109	0.83[EUR][1000 genomes]
rs233112	0.84[EUR][1000 genomes]
rs233113	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233114	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233115	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233118	0.82[EUR][1000 genomes]
rs233119	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233120	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233121	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233124	0.82[EUR][1000 genomes]
rs233127	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233130	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233131	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233132	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233133	0.83[EUR][1000 genomes]
rs2840319	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3087894	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768227	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3920521	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3949301	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs423105	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4949890	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949900	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506082	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58821561	0.81[AMR][1000 genomes]
rs6576761	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6576763	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6576764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576765	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6576766	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6576767	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657817	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671599	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66811655	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6704103	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611930	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72724606	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs729655	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7525786	0.82[AFR][1000 genomes]
rs7547571	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7555670	0.82[AFR][1000 genomes]
rs761601	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs997251	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	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
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
2	chr1:85855200-85870000	Weak transcription	Fetal Stomach	stomach
3	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
5	chr1:85862600-85869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:85862800-85866200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:85862800-85866200	Enhancers	NHLF	lung
8	chr1:85862800-85867000	Enhancers	Liver	Liver
9	chr1:85863400-85866400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:85863600-85867000	Genic enhancers	Osteobl	bone
11	chr1:85864000-85872600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:85864400-85866400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:85864400-85869800	Weak transcription	Aorta	Aorta
14	chr1:85864400-85870600	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:85864400-85871000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:85864400-85871800	Weak transcription	NH-A	brain
17	chr1:85864400-85872200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:85864600-85870000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:85864800-85866600	Enhancers	Ovary	ovary
22	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:85865200-85866200	Enhancers	Adipose Nuclei	Adipose
24	chr1:85865200-85870000	Weak transcription	Psoas Muscle	Psoas
25	chr1:85865200-85871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:85865400-85869200	Weak transcription	HUVEC	blood vessel
27	chr1:85865400-85870800	Weak transcription	NHDF-Ad	bronchial
28	chr1:85865400-85871200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:85865400-85871400	Weak transcription	Fetal Lung	lung
30	chr1:85865400-85871400	Weak transcription	HSMM	muscle
31	chr1:85865400-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:85865600-85866200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:85865600-85869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:85865600-85870800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:85865600-85871600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:85865800-85866200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:85865800-85866400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:85865800-85869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:85865800-85869000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:85865800-85869800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:85865800-85870200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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