Variant report

Variant	rs73835772
Chromosome Location	chr3:52317220-52317221
allele	C/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	chr3:52272849..52274871-chr3:52314813..52317682,2	MCF-7	breast:
2	chr3:52317008..52318750-chr3:52319052..52321933,3	MCF-7	breast:
3	chr3:52312898..52314508-chr3:52316023..52317538,2	MCF-7	breast:
4	chr3:52312154..52315273-chr3:52316088..52318797,4	K562	blood:
5	chr3:52298716..52301587-chr3:52317190..52319197,2	K562	blood:
6	chr3:52310993..52314718-chr3:52315546..52317636,7	MCF-7	breast:
7	chr3:52314559..52317342-chr3:52444350..52446225,2	K562	blood:
8	chr3:52317125..52319496-chr3:52319751..52323578,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010318	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000239732	Chromatin interaction
ENSG00000247596	Chromatin interaction
ENSG00000243224	Chromatin interaction
ENSG00000163930	Chromatin interaction
ENSG00000168237	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs55931436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56263308	1.00[AMR][1000 genomes]
rs56332579	1.00[AMR][1000 genomes]
rs57265663	1.00[AMR][1000 genomes]
rs60063053	1.00[AMR][1000 genomes]
rs61589587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61734625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61738522	1.00[AMR][1000 genomes]
rs6765965	1.00[AMR][1000 genomes]
rs6778451	1.00[AMR][1000 genomes]
rs6789826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835708	1.00[AMR][1000 genomes]
rs73835711	1.00[AMR][1000 genomes]
rs73835763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835764	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835771	0.97[AFR][1000 genomes]
rs73835773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837050	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837056	1.00[AMR][1000 genomes]
rs73837058	1.00[AMR][1000 genomes]
rs73837574	1.00[AMR][1000 genomes]
rs73838346	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644241	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
3	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
5	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
6	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
7	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52313200-52321000	Weak transcription	Gastric	stomach
2	chr3:52313400-52320400	Weak transcription	Lung	lung
3	chr3:52313400-52321000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:52313600-52318200	Enhancers	Fetal Intestine Small	intestine
5	chr3:52313600-52320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:52313600-52320800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:52313600-52320800	Weak transcription	Colonic Mucosa	Colon
8	chr3:52313600-52321000	Enhancers	Fetal Intestine Large	intestine
9	chr3:52313600-52321000	Weak transcription	Left Ventricle	heart
10	chr3:52313600-52321000	Weak transcription	Psoas Muscle	Psoas
11	chr3:52313600-52321000	Weak transcription	Right Atrium	heart
12	chr3:52313800-52318600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:52313800-52320800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:52313800-52320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:52314000-52320800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:52314000-52320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:52314000-52321000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:52314200-52317600	Enhancers	Adipose Nuclei	Adipose
19	chr3:52314200-52317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:52314200-52320800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:52314200-52320800	Weak transcription	Fetal Brain Female	brain
22	chr3:52314200-52320800	Weak transcription	NHLF	lung
23	chr3:52314400-52318200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:52314400-52320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:52314400-52320600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:52314400-52320600	Weak transcription	Dnd41	blood
27	chr3:52314400-52320800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:52314400-52320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:52314400-52320800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:52314400-52320800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:52314400-52320800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr3:52314400-52320800	Weak transcription	Brain Substantia Nigra	brain
33	chr3:52314400-52320800	Weak transcription	HMEC	breast
34	chr3:52314400-52320800	Weak transcription	NHEK	skin
35	chr3:52314400-52321000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:52314600-52318800	Weak transcription	Stomach Mucosa	stomach
37	chr3:52314600-52320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:52314600-52320800	Weak transcription	Brain Anterior Caudate	brain
39	chr3:52314600-52320800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:52314600-52320800	Weak transcription	Fetal Lung	lung
41	chr3:52314600-52321000	Weak transcription	Brain Germinal Matrix	brain
42	chr3:52314800-52320400	Weak transcription	Pancreas	Pancrea
43	chr3:52314800-52320400	Weak transcription	HSMM	muscle
44	chr3:52314800-52320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:52314800-52320800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:52314800-52320800	Weak transcription	Brain Angular Gyrus	brain
47	chr3:52314800-52320800	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:52314800-52320800	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:52314800-52320800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:52314800-52320800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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