Variant report

Variant	rs57952044
Chromosome Location	chr5:179095751-179095752
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179048142..179050752-chr5:179095144..179097340,5	MCF-7	breast:
2	chr5:179084083..179087060-chr5:179094227..179096251,2	K562	blood:
3	chr5:179042046..179045911-chr5:179093714..179097156,4	K562	blood:
4	chr5:179038960..179041938-chr5:179093606..179095921,3	K562	blood:
5	chr5:179094562..179097080-chr5:179122833..179124461,2	MCF-7	breast:
6	chr5:179091330..179094019-chr5:179094233..179096513,3	K562	blood:
7	chr5:179033898..179035885-chr5:179094594..179096671,2	MCF-7	breast:
8	chr5:179064378..179067657-chr5:179095247..179097749,4	K562	blood:
9	chr5:178921207..178921791-chr5:179095335..179095939,2	K562	blood:
10	chr5:178946216..178946980-chr5:179095346..179096018,3	MCF-7	breast:
11	chr5:179049332..179050368-chr5:179095139..179096218,4	MCF-7	breast:
12	chr5:179094244..179096589-chr5:179124511..179127477,2	MCF-7	breast:
13	chr5:178980836..178983768-chr5:179095589..179098241,2	MCF-7	breast:
14	chr5:179048865..179051290-chr5:179093625..179096792,3	MCF-7	breast:
15	chr5:179048902..179051476-chr5:179093984..179097643,6	K562	blood:
16	chr5:179095526..179096093-chr5:179105184..179105999,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC136604.1-1	chr5:179094877-179096772	NONHSAT105614

No data

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000250999	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11949522	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34010121	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1023502	chr5:179086091-179105316	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179085800-179099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:179085800-179099400	Weak transcription	Aorta	Aorta
3	chr5:179085800-179103800	Weak transcription	GM12878-XiMat	blood
4	chr5:179085800-179104000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:179085800-179104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:179085800-179104200	Weak transcription	A549	lung
7	chr5:179085800-179104600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:179085800-179104600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:179085800-179104600	Weak transcription	Esophagus	oesophagus
10	chr5:179085800-179104600	Weak transcription	Fetal Kidney	kidney
11	chr5:179085800-179104800	Weak transcription	Right Ventricle	heart
12	chr5:179085800-179105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:179086000-179103600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179086000-179104000	Weak transcription	Fetal Brain Male	brain
15	chr5:179086000-179104400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:179086000-179104600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:179086000-179104600	Weak transcription	NHEK	skin
18	chr5:179086200-179104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179086200-179104600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:179086200-179104800	Weak transcription	Brain Angular Gyrus	brain
21	chr5:179090600-179097000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr5:179091000-179104600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:179091600-179103800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:179091800-179104800	Weak transcription	Ovary	ovary
25	chr5:179091800-179104800	Weak transcription	NHLF	lung
26	chr5:179092200-179105000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:179092400-179104000	Weak transcription	Liver	Liver
28	chr5:179092400-179104400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:179092400-179104600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:179092600-179096000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:179092600-179103000	Weak transcription	HepG2	liver
32	chr5:179092600-179103600	Weak transcription	Pancreas	Pancrea
33	chr5:179092600-179103800	Weak transcription	Dnd41	blood
34	chr5:179092600-179104200	Weak transcription	Osteobl	bone
35	chr5:179092600-179104600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:179092600-179104600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:179092600-179104800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:179092800-179096600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:179092800-179098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:179092800-179100600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:179092800-179101600	Weak transcription	Fetal Lung	lung
42	chr5:179092800-179104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:179092800-179104400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:179092800-179105000	Weak transcription	Left Ventricle	heart
45	chr5:179093000-179097800	Weak transcription	Colonic Mucosa	Colon
46	chr5:179093000-179103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:179093000-179104000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:179093000-179104000	Weak transcription	Thymus	Thymus
49	chr5:179093000-179104200	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:179093000-179104600	Weak transcription	Adipose Nuclei	Adipose

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