Variant report

Variant	rs4513483
Chromosome Location	chr3:196076739-196076740
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:2234775..2236762-chr3:196074276..196076794,2	MCF-7	breast:
2	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
3	chr3:196074463..196076751-chr3:196080961..196082599,3	MCF-7	breast:
4	chr3:196071912..196074086-chr3:196075769..196077797,2	MCF-7	breast:
5	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
6	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
7	chr3:196067298..196070005-chr3:196075365..196077810,2	K562	blood:
8	chr3:196062135..196067019-chr3:196076390..196080576,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212146	Chromatin interaction
ENSG00000104886	Chromatin interaction
ENSG00000104897	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000145107	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11712853	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488531	0.81[AFR][1000 genomes]
rs13089205	0.82[AFR][1000 genomes]
rs28594421	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34702811	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4290832	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4371545	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916428	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6774540	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805994	0.90[EUR][1000 genomes]
rs7373049	0.81[EUR][1000 genomes]
rs7373385	0.81[EUR][1000 genomes]
rs7374841	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7617626	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9821735	0.81[EUR][1000 genomes]
rs9848247	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9860931	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9874783	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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	45 gene(s)	inside rSNPs	diseases
11	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription 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	30 gene(s)	inside rSNPs	diseases
12	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1836491	chr3:196051403-196078427	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv2498896	chr3:196076505-196077881	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	6 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	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
3	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
8	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:196068600-196077600	Weak transcription	Osteobl	bone
10	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
12	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:196070400-196082400	Weak transcription	HMEC	breast
16	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:196070800-196080800	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:196070800-196081200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:196070800-196081800	Weak transcription	Brain Germinal Matrix	brain
21	chr3:196070800-196082600	Weak transcription	Aorta	Aorta
22	chr3:196071000-196081000	Weak transcription	NHEK	skin
23	chr3:196071000-196081200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:196071000-196081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:196071000-196082600	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:196071400-196080600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:196071400-196081000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:196071800-196082600	Weak transcription	Gastric	stomach
29	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:196072000-196080800	Weak transcription	NHLF	lung
31	chr3:196072200-196081200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:196072400-196080000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:196072600-196082600	Weak transcription	Lung	lung
35	chr3:196072800-196077600	Weak transcription	Fetal Lung	lung
36	chr3:196072800-196080600	Weak transcription	Dnd41	blood
37	chr3:196072800-196081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:196072800-196082200	Weak transcription	Brain Angular Gyrus	brain
39	chr3:196072800-196082200	Weak transcription	Fetal Heart	heart
40	chr3:196072800-196082600	Weak transcription	Fetal Kidney	kidney
41	chr3:196073000-196080800	Weak transcription	Ovary	ovary
42	chr3:196073000-196081000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr3:196073000-196082600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:196073000-196082600	Weak transcription	Spleen	Spleen
45	chr3:196073200-196081200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:196073200-196082200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:196073200-196082200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:196073600-196080600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:196073600-196081000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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