Variant report

Variant	rs4671991
Chromosome Location	chr2:55131979-55131980
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55127373..55130135-chr2:55130954..55133199,2	K562	blood:
2	chr2:55131786..55132384-chr2:55236584..55237394,2	MCF-7	breast:
3	chr2:55130649..55133566-chr2:55214516..55217293,2	K562	blood:
4	chr2:55131871..55133906-chr2:55272256..55273757,2	MCF-7	breast:
5	chr2:55010731..55013685-chr2:55129900..55132615,2	K562	blood:
6	chr2:55131952..55133594-chr2:55135173..55137176,2	MCF-7	breast:
7	chr2:55129551..55132200-chr2:55194668..55197954,3	MCF-7	breast:
8	chr2:55129798..55133385-chr2:55275223..55278848,4	MCF-7	breast:
9	chr2:55130704..55133111-chr2:55237252..55238774,2	MCF-7	breast:
10	chr2:55130491..55133378-chr2:55191719..55193881,2	MCF-7	breast:
11	chr2:55130679..55134331-chr2:55179003..55183555,6	MCF-7	breast:
12	chr2:55129480..55132018-chr2:55180693..55183896,3	MCF-7	breast:
13	chr2:55131884..55132585-chr2:55390651..55391252,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10171653	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12467381	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17046477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17046514	0.86[CHB][hapmap]
rs2304687	0.82[ASN][1000 genomes]
rs34121514	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36126551	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4671987	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671988	0.94[EUR][1000 genomes]
rs4671989	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671993	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs60808665	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6707572	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67299431	0.90[EUR][1000 genomes]
rs919669	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55127000-55132400	Weak transcription	Fetal Brain Male	brain
3	chr2:55127600-55133400	Weak transcription	Fetal Brain Female	brain
4	chr2:55127800-55133400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:55127800-55133600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:55128000-55133400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:55128000-55133400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:55128000-55133800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:55129200-55133600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:55130200-55133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55130400-55133800	Enhancers	Fetal Intestine Large	intestine
12	chr2:55130600-55132200	Enhancers	HSMMtube	muscle
13	chr2:55130600-55132200	Enhancers	HUVEC	blood vessel
14	chr2:55130600-55133200	Enhancers	NHLF	lung
15	chr2:55130800-55132000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:55130800-55132000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:55130800-55132000	Enhancers	K562	blood
18	chr2:55130800-55132400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:55130800-55132400	Enhancers	Adipose Nuclei	Adipose
20	chr2:55130800-55132400	Flanking Active TSS	NHEK	skin
21	chr2:55130800-55133600	Enhancers	Fetal Intestine Small	intestine
22	chr2:55131000-55132000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:55131000-55132000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:55131000-55132200	Enhancers	Stomach Mucosa	stomach
25	chr2:55131000-55133000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:55131000-55134200	Enhancers	Fetal Muscle Leg	muscle
27	chr2:55131200-55132000	Flanking Active TSS	Liver	Liver
28	chr2:55131200-55132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:55131200-55132200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:55131200-55132200	Enhancers	NH-A	brain
31	chr2:55131200-55132400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:55131400-55132000	Enhancers	Fetal Thymus	thymus
33	chr2:55131400-55132000	Enhancers	Pancreas	Pancrea
34	chr2:55131400-55132000	Enhancers	Psoas Muscle	Psoas
35	chr2:55131400-55132000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr2:55131400-55132000	Flanking Active TSS	Osteobl	bone
37	chr2:55131400-55132400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:55131400-55132400	Enhancers	Placenta	Placenta
39	chr2:55131600-55132000	Flanking Active TSS	Colonic Mucosa	Colon
40	chr2:55131600-55132000	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr2:55131600-55132000	Enhancers	Esophagus	oesophagus
42	chr2:55131600-55132000	Enhancers	Gastric	stomach
43	chr2:55131600-55132000	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:55131600-55132000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:55131600-55132400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:55131600-55132400	Flanking Active TSS	HMEC	breast
47	chr2:55131600-55132600	Enhancers	HepG2	liver
48	chr2:55131600-55133000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:55131600-55134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:55131800-55132000	Active TSS	Rectal Mucosa Donor 29	rectum

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