Variant report

Variant	rs6721290
Chromosome Location	chr2:190276709-190276710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190007607..190008525-chr2:190276403..190277763,5	MCF-7	breast:
2	chr2:189389248..189389928-chr2:190276695..190277389,2	K562	blood:
3	chr2:189848219..189848800-chr2:190276497..190277312,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10497701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10497702	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11681937	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684417	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11686908	0.88[ASN][1000 genomes]
rs11688806	0.90[ASN][1000 genomes]
rs13389708	0.81[EUR][1000 genomes]
rs1371470	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1402369	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198829	0.81[EUR][1000 genomes]
rs17198857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17198892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271008	0.81[EUR][1000 genomes]
rs17271015	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17271036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17271043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271071	0.86[ASN][1000 genomes]
rs2289225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55822942	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56252219	0.81[EUR][1000 genomes]
rs58584769	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58926658	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61410845	0.88[ASN][1000 genomes]
rs61528955	0.81[EUR][1000 genomes]
rs62182060	0.81[EUR][1000 genomes]
rs62182061	0.81[EUR][1000 genomes]
rs62182066	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62182070	0.88[ASN][1000 genomes]
rs62183846	0.81[EUR][1000 genomes]
rs62183847	0.81[EUR][1000 genomes]
rs62183848	0.81[EUR][1000 genomes]
rs62184647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62184648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62184649	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62184652	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184653	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62187072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62187074	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62187075	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62187077	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62187078	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62187082	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62187106	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6747132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72912280	0.81[EUR][1000 genomes]
rs72912286	0.81[EUR][1000 genomes]
rs72914141	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72914175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7423067	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564429	0.81[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190268200-190276800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:190273000-190277600	Enhancers	NH-A	brain
3	chr2:190273000-190277800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:190273000-190286200	Weak transcription	Aorta	Aorta
5	chr2:190273200-190276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:190273200-190277600	Enhancers	NHDF-Ad	bronchial
7	chr2:190273200-190277800	Enhancers	Colon Smooth Muscle	Colon
8	chr2:190273200-190278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:190273400-190277800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:190274200-190277600	Weak transcription	Fetal Stomach	stomach
11	chr2:190275400-190278200	Enhancers	NHLF	lung
12	chr2:190275800-190277800	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:190276000-190277200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:190276000-190277200	Enhancers	Adipose Nuclei	Adipose
15	chr2:190276000-190277200	Enhancers	HUVEC	blood vessel
16	chr2:190276000-190277600	Enhancers	A549	lung
17	chr2:190276000-190277800	Enhancers	Fetal Lung	lung
18	chr2:190276000-190277800	Enhancers	Osteobl	bone
19	chr2:190276200-190277000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:190276200-190277000	Enhancers	HMEC	breast
21	chr2:190276200-190277200	Enhancers	Primary T cells from cord blood	blood
22	chr2:190276400-190276800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:190276400-190277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:190276400-190277000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:190276400-190277000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:190276400-190277400	Weak transcription	HSMM	muscle
27	chr2:190276400-190277600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:190276600-190276800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:190276600-190277000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:190276600-190277000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:190276600-190277000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:190276600-190277000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:190276600-190277000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:190276600-190277000	Active TSS	Ovary	ovary
35	chr2:190276600-190277000	Enhancers	Psoas Muscle	Psoas
36	chr2:190276600-190277000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:190276600-190277000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:190276600-190277000	Enhancers	HSMMtube	muscle
39	chr2:190276600-190277000	Enhancers	NHEK	skin

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