Variant report

Variant	rs2705506
Chromosome Location	chr3:112291218-112291219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112281244..112282995-chr3:112290178..112292787,2	K562	blood:
2	chr3:112290282..112294480-chr3:112295112..112298665,4	K562	blood:
3	chr3:112289268..112293035-chr3:112358216..112361029,3	MCF-7	breast:
4	chr3:112290552..112292970-chr3:112296828..112298665,2	K562	blood:
5	chr3:112280777..112282990-chr3:112288928..112291699,3	MCF-7	breast:

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

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10934177	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1385527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1386896	0.86[ASN][1000 genomes]
rs1388442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1472106	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1472107	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1488260	0.86[ASN][1000 genomes]
rs1488262	0.86[ASN][1000 genomes]
rs1491629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1532198	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552707	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1814053	0.86[ASN][1000 genomes]
rs1817694	0.86[ASN][1000 genomes]
rs1844864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1877362	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1877364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1906519	0.86[ASN][1000 genomes]
rs2029317	0.86[ASN][1000 genomes]
rs2399431	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2464612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638036	0.86[ASN][1000 genomes]
rs2638041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638043	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2638044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2668216	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705524	0.86[ASN][1000 genomes]
rs2705551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2705563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2933139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2933140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2969894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6793232	0.86[ASN][1000 genomes]
rs7618978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs901829	0.86[ASN][1000 genomes]
rs971832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs986883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:112281800-112299400	Weak transcription	Left Ventricle	heart
3	chr3:112281800-112301600	Weak transcription	HepG2	liver
4	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
6	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
7	chr3:112281800-112325400	Weak transcription	Gastric	stomach
8	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
11	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
12	chr3:112282400-112291800	Weak transcription	Fetal Kidney	kidney
13	chr3:112282400-112299400	Weak transcription	Fetal Stomach	stomach
14	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
15	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
16	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
17	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
18	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:112282600-112291800	Weak transcription	NHDF-Ad	bronchial
24	chr3:112282600-112297200	Weak transcription	Thymus	Thymus
25	chr3:112282600-112298200	Weak transcription	NHEK	skin
26	chr3:112282600-112301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:112282600-112301400	Weak transcription	A549	lung
28	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:112282800-112291400	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:112282800-112292600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:112282800-112298600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:112282800-112301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:112282800-112302200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:112283000-112299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:112283000-112301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:112283200-112291400	Weak transcription	Fetal Brain Male	brain
38	chr3:112283600-112291400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:112283600-112295800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:112283800-112291400	Strong transcription	Adipose Nuclei	Adipose
41	chr3:112283800-112295400	Strong transcription	Liver	Liver
42	chr3:112284000-112297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:112284000-112298600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:112284200-112293600	Strong transcription	Fetal Thymus	thymus
45	chr3:112284400-112294400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:112284600-112294600	Weak transcription	Fetal Intestine Small	intestine
47	chr3:112284800-112294200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:112285200-112292400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr3:112285200-112293400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:112285200-112294400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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