Variant report

Variant	rs971832
Chromosome Location	chr3:112272647-112272648
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112271839..112274196-chr3:112276069..112278465,2	K562	blood:
2	chr3:112270877..112274678-chr3:112278992..112281610,4	MCF-7	breast:
3	chr3:112270443..112273330-chr3:112277844..112281278,5	MCF-7	breast:
4	chr3:112272044..112274714-chr3:112358450..112360286,2	MCF-7	breast:
5	chr3:112272255..112274870-chr3:112277581..112280165,3	K562	blood:

Variant related genes	Relation type
ENSG00000138459	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000144848	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10934177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386896	1.00[ASN][1000 genomes]
rs1388442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472107	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488260	1.00[ASN][1000 genomes]
rs1488262	1.00[ASN][1000 genomes]
rs1491629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814053	1.00[ASN][1000 genomes]
rs1817694	1.00[ASN][1000 genomes]
rs1844864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877362	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906519	1.00[ASN][1000 genomes]
rs2029317	1.00[ASN][1000 genomes]
rs2399431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2464612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638030	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638036	1.00[ASN][1000 genomes]
rs2638041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638043	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2638044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668216	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705524	1.00[ASN][1000 genomes]
rs2705551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933139	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2969894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109033	0.86[ASN][1000 genomes]
rs62264580	0.83[ASN][1000 genomes]
rs6793232	1.00[ASN][1000 genomes]
rs7618978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901829	1.00[ASN][1000 genomes]
rs986883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112244400-112274200	Weak transcription	Stomach Mucosa	stomach
2	chr3:112244400-112278200	Weak transcription	K562	blood
3	chr3:112244400-112278400	Weak transcription	HSMMtube	muscle
4	chr3:112245200-112273200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:112245800-112279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:112247600-112279600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:112248400-112274200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:112249200-112275800	Weak transcription	Fetal Stomach	stomach
9	chr3:112249200-112276000	Weak transcription	Spleen	Spleen
10	chr3:112249200-112278200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:112249200-112278400	Weak transcription	Aorta	Aorta
12	chr3:112249200-112279600	Weak transcription	Esophagus	oesophagus
13	chr3:112249200-112279600	Weak transcription	Gastric	stomach
14	chr3:112249200-112279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:112249400-112276200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:112249400-112279600	Weak transcription	Lung	lung
17	chr3:112251000-112274200	Weak transcription	Brain Angular Gyrus	brain
18	chr3:112252600-112278400	Weak transcription	Fetal Kidney	kidney
19	chr3:112253000-112273400	Weak transcription	Brain Substantia Nigra	brain
20	chr3:112253200-112278600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:112254200-112273600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:112257600-112274000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr3:112260000-112278200	Weak transcription	Fetal Brain Male	brain
24	chr3:112260400-112279600	Weak transcription	Pancreas	Pancrea
25	chr3:112265000-112276000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:112266000-112274200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:112266200-112278200	Weak transcription	Fetal Heart	heart
28	chr3:112266200-112278200	Weak transcription	NHLF	lung
29	chr3:112266200-112278400	Weak transcription	Colonic Mucosa	Colon
30	chr3:112266400-112278200	Weak transcription	NHEK	skin
31	chr3:112266800-112274400	Weak transcription	A549	lung
32	chr3:112266800-112278400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:112267000-112274000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:112267000-112274000	Weak transcription	HUVEC	blood vessel
35	chr3:112267000-112274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:112267000-112278400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:112267000-112278400	Weak transcription	NHDF-Ad	bronchial
38	chr3:112267200-112274200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:112267200-112276000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:112267200-112276000	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:112267200-112278400	Weak transcription	Thymus	Thymus
42	chr3:112267200-112279200	Weak transcription	Right Ventricle	heart
43	chr3:112267400-112274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:112267600-112273000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:112267600-112273000	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:112267600-112274800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:112267600-112275800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:112267600-112278200	Weak transcription	Ovary	ovary
49	chr3:112267600-112278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:112267600-112279600	Weak transcription	Fetal Muscle Trunk	muscle

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