Variant report

Variant	rs2901451
Chromosome Location	chr2:73807023-73807024
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	chr2:73806876..73809053-chr2:73809363..73811205,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10192708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10496189	1.00[ASN][1000 genomes]
rs1052161	0.86[LWK][hapmap]
rs11884364	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890811	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900562	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466032	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475442	1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475618	1.00[ASN][1000 genomes]
rs12476993	1.00[JPT][hapmap]
rs12479158	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479243	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358452	1.00[ASN][1000 genomes]
rs1403283	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009036	1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17009051	1.00[ASN][1000 genomes]
rs17009061	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17009070	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17009339	1.00[JPT][hapmap]
rs17848867	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881244	1.00[ASN][1000 genomes]
rs2140194	1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs2421545	0.88[YRI][hapmap]
rs28730853	1.00[ASN][1000 genomes]
rs34617744	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34735981	1.00[ASN][1000 genomes]
rs36057913	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60130127	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61335053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706333	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708480	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711285	1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6718672	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6723002	1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723245	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725385	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734298	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746054	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751876	1.00[ASN][1000 genomes]
rs6752342	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752620	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72635972	0.86[EUR][1000 genomes]
rs72635973	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558613	1.00[ASN][1000 genomes]
rs7567443	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571147	1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs7574950	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577699	1.00[ASN][1000 genomes]
rs7585663	0.83[YRI][hapmap]
rs7587537	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599369	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7600935	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603754	1.00[ASN][1000 genomes]
rs7608706	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
3	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
4	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:73765400-73808400	Weak transcription	HepG2	liver
7	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
9	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:73775600-73811400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:73776000-73821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:73776400-73807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:73778600-73811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:73782200-73811400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:73782600-73808000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:73784200-73808200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:73785200-73815400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
19	chr2:73786200-73815400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:73787400-73809800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:73787800-73807200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:73788200-73815200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:73792200-73828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:73792600-73820800	Weak transcription	HSMMtube	muscle
25	chr2:73793800-73807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:73797400-73828400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:73798600-73808800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:73800000-73815400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:73800000-73815400	Weak transcription	Ovary	ovary
30	chr2:73800400-73807200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:73800400-73815400	Weak transcription	Lung	lung
32	chr2:73800400-73827600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:73800600-73807200	Weak transcription	Thymus	Thymus
34	chr2:73800600-73807400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:73800600-73808000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:73800600-73809200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:73800600-73809600	Weak transcription	Placenta	Placenta
38	chr2:73800600-73821200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:73800600-73821600	Weak transcription	Primary B cells from cord blood	blood
40	chr2:73800600-73822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:73800600-73828000	Weak transcription	Gastric	stomach
42	chr2:73800600-73828400	Weak transcription	Aorta	Aorta
43	chr2:73800600-73828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:73800800-73807200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:73800800-73807200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:73800800-73807200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:73800800-73807600	Weak transcription	Primary T cells from cord blood	blood
48	chr2:73800800-73808000	Weak transcription	Adipose Nuclei	Adipose
49	chr2:73800800-73809000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:73800800-73809600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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