Variant report

Variant	rs533970
Chromosome Location	chr2:32238107-32238108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:
2	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
3	chr2:32235889..32238860-chr2:32287017..32290574,4	MCF-7	breast:
4	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
5	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162961	Chromatin interaction
ENSG00000021574	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11682335	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13403364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160793	1.00[AMR][1000 genomes]
rs160796	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs191961	1.00[AMR][1000 genomes]
rs2116030	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs212750	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]
rs216536	0.87[AFR][1000 genomes]
rs216542	0.85[YRI][hapmap]
rs221195	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs223654	1.00[AMR][1000 genomes]
rs223663	1.00[AMR][1000 genomes]
rs418486	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs420731	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs483796	1.00[CEU][hapmap]
rs486754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs490226	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4952202	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs502824	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs552555	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs559693	1.00[AMR][1000 genomes]
rs591625	0.81[EUR][1000 genomes]
rs624859	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs631826	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6543650	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6543651	1.00[MEX][hapmap]
rs6543652	1.00[CEU][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap]
rs7589874	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7593078	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7600278	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs806149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32236400-32245000	Weak transcription	Lung	lung
2	chr2:32236400-32250800	Weak transcription	Spleen	Spleen
3	chr2:32236400-32264200	Weak transcription	Gastric	stomach
4	chr2:32236600-32238200	Weak transcription	Fetal Brain Female	brain
5	chr2:32236600-32243800	Weak transcription	Ovary	ovary
6	chr2:32236600-32244400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:32236600-32245000	Weak transcription	Left Ventricle	heart
8	chr2:32236600-32245200	Weak transcription	Fetal Brain Male	brain
9	chr2:32236600-32253400	Weak transcription	Esophagus	oesophagus
10	chr2:32236600-32261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
15	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
17	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
18	chr2:32236800-32240000	Weak transcription	Fetal Intestine Large	intestine
19	chr2:32236800-32240600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:32236800-32240800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:32236800-32241000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:32236800-32241400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:32236800-32241400	Weak transcription	Adipose Nuclei	Adipose
24	chr2:32236800-32242400	Weak transcription	Placenta	Placenta
25	chr2:32236800-32242600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:32236800-32242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:32236800-32242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:32236800-32242800	Weak transcription	Fetal Lung	lung
29	chr2:32236800-32242800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:32236800-32242800	Weak transcription	Thymus	Thymus
31	chr2:32236800-32242800	Weak transcription	Osteobl	bone
32	chr2:32236800-32244600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:32236800-32245200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:32236800-32245200	Weak transcription	Aorta	Aorta
35	chr2:32236800-32245400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:32236800-32247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:32236800-32248000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:32236800-32248200	Weak transcription	HSMM	muscle
39	chr2:32236800-32250800	Weak transcription	NH-A	brain
40	chr2:32236800-32251600	Weak transcription	Stomach Mucosa	stomach
41	chr2:32236800-32253200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:32236800-32258800	Weak transcription	Fetal Kidney	kidney
43	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
45	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
46	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
47	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
49	chr2:32237000-32238200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:32237000-32238400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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