Variant report

Variant	rs2306068
Chromosome Location	chr3:113233584-113233585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:
2	chr3:112279637..112281423-chr3:113232414..113235211,2	K562	blood:
3	chr3:113232695..113235446-chr3:113249011..113251267,3	K562	blood:
4	chr3:112709917..112711539-chr3:113232036..113234156,2	K562	blood:
5	chr3:113232788..113235774-chr3:113464780..113467765,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR52-3	chr3:113233505-113233689	NONHSAT091231

No data

Variant related genes	Relation type
ENSG00000163607	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000242659	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000114573	Chromatin interaction
ENSG00000121579	Chromatin interaction
ENSG00000072858	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10511325	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11917149	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11917288	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11919330	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11920635	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11920725	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11922598	1.00[JPT][hapmap]
rs11922838	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11923128	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11924109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926687	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1463639	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1513288	1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16845109	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16860962	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs16861014	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861023	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16861025	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861032	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861045	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861077	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16861109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861115	0.87[YRI][hapmap]
rs16861217	0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs17255950	0.91[EUR][1000 genomes]
rs17256551	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs17256752	0.94[EUR][1000 genomes]
rs17322613	0.94[EUR][1000 genomes]
rs17325024	0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs1906141	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1989359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2129432	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2271496	0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs2291412	0.94[EUR][1000 genomes]
rs2306070	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]
rs28472841	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35758075	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35812463	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56685963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56772417	0.91[EUR][1000 genomes]
rs57115529	0.94[EUR][1000 genomes]
rs57164268	0.94[EUR][1000 genomes]
rs57366942	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58905600	0.94[EUR][1000 genomes]
rs58988763	0.91[EUR][1000 genomes]
rs59271111	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59493419	0.94[EUR][1000 genomes]
rs59673391	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582065	0.84[EUR][1000 genomes]
rs60697865	0.91[EUR][1000 genomes]
rs60940543	0.94[EUR][1000 genomes]
rs61065093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61575357	0.87[EUR][1000 genomes]
rs6438150	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6438151	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6783691	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]
rs735	0.91[EUR][1000 genomes]
rs7610552	0.91[AMR][1000 genomes];0.86[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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113232400-113235200	Active TSS	A549	lung
2	chr3:113232600-113233600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr3:113232600-113234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:113232600-113234400	Active TSS	HMEC	breast
5	chr3:113232600-113234600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:113232600-113234600	Active TSS	GM12878-XiMat	blood
7	chr3:113232600-113234600	Active TSS	K562	blood
8	chr3:113232600-113234600	Active TSS	Osteobl	bone
9	chr3:113232600-113234800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:113232600-113234800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:113232600-113234800	Active TSS	Right Ventricle	heart
12	chr3:113232600-113235000	Active TSS	Thymus	Thymus
13	chr3:113232600-113235000	Active TSS	NHLF	lung
14	chr3:113232800-113233600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:113232800-113233600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr3:113232800-113233600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:113232800-113233600	Flanking Active TSS	HUVEC	blood vessel
18	chr3:113232800-113233600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:113232800-113233800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr3:113232800-113234000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:113232800-113234600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:113232800-113234600	Active TSS	Brain Germinal Matrix	brain
23	chr3:113232800-113234600	Active TSS	Fetal Stomach	stomach
24	chr3:113232800-113234800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:113232800-113234800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr3:113232800-113235000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:113232800-113235200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr3:113233000-113233600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:113233000-113233600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr3:113233000-113233600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:113233000-113233600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr3:113233000-113233600	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr3:113233000-113233600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr3:113233000-113233600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:113233000-113233800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:113233000-113234000	ZNF genes & repeats	Fetal Brain Male	brain
37	chr3:113233000-113234000	Bivalent/Poised TSS	HepG2	liver
38	chr3:113233000-113234400	Active TSS	Fetal Thymus	thymus
39	chr3:113233000-113234600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:113233000-113234600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:113233000-113234600	Active TSS	Fetal Muscle Trunk	muscle
42	chr3:113233000-113234600	Active TSS	Placenta Amnion	Placenta Amnion
43	chr3:113233000-113234600	Active TSS	Stomach Mucosa	stomach
44	chr3:113233000-113234600	Active TSS	Hela-S3	cervix
45	chr3:113233000-113234600	Active TSS	HSMMtube	muscle
46	chr3:113233000-113234800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr3:113233000-113234800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr3:113233000-113234800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:113233000-113234800	Active TSS	Fetal Intestine Large	intestine
50	chr3:113233000-113234800	Active TSS	Fetal Intestine Small	intestine

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