Variant report

Variant	rs501650
Chromosome Location	chr2:234771043-234771044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
2	chr2:234764614..234767781-chr2:234770318..234773555,4	MCF-7	breast:
3	chr2:234768404..234771123-chr2:234772498..234774550,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10173569	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11562979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11563231	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13384575	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13384669	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13390819	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398248	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13403318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406457	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417465	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13427471	0.94[EUR][1000 genomes]
rs17862903	0.94[EUR][1000 genomes]
rs17862907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862921	0.87[ASN][1000 genomes]
rs17863825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17863838	0.90[ASN][1000 genomes]
rs17864729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868369	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs186159	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs188492	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs213541	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs213543	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs213544	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs213550	0.97[ASN][1000 genomes]
rs213556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2173746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2530796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473504	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs494812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498786	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs498790	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511387	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs522389	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs529963	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs531771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536265	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs566529	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs566985	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs568906	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs570800	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs575194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577782	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598759	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs598760	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs606397	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs611131	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619351	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs622954	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs625151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741751	0.90[ASN][1000 genomes]
rs686003	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs686007	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs686802	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs688677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693637	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9646718	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234763800-234774600	Weak transcription	Placenta	Placenta
3	chr2:234763800-234774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:234763800-234775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234763800-234775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234763800-234776600	Weak transcription	Right Ventricle	heart
7	chr2:234764000-234774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234764000-234775200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:234764000-234776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234764000-234776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234764000-234776600	Weak transcription	HUVEC	blood vessel
12	chr2:234764200-234773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:234764200-234774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:234764200-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:234764200-234774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:234764200-234774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:234764200-234774800	Weak transcription	Osteobl	bone
18	chr2:234764200-234775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:234764200-234775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:234764200-234776600	Weak transcription	Primary B cells from cord blood	blood
21	chr2:234764200-234776600	Weak transcription	Primary T cells from cord blood	blood
22	chr2:234764200-234776600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:234764200-234776600	Weak transcription	HMEC	breast
24	chr2:234764200-234776600	Weak transcription	NH-A	brain
25	chr2:234764200-234776600	Weak transcription	NHDF-Ad	bronchial
26	chr2:234764200-234776600	Weak transcription	NHEK	skin
27	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:234764400-234774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:234764400-234774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:234764400-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:234764400-234775000	Weak transcription	NHLF	lung
32	chr2:234764400-234776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:234764400-234776600	Weak transcription	HSMM	muscle
34	chr2:234767000-234776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:234767400-234774400	Weak transcription	K562	blood
36	chr2:234768000-234772600	Weak transcription	A549	lung
37	chr2:234770800-234771400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:234771000-234771200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:234771000-234771200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:234771000-234771200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:234771000-234771200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:234771000-234771400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:234771000-234771400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:234771000-234771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:234771000-234771400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:234771000-234771400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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