Variant report

Variant	rs35443996
Chromosome Location	chr5:179037375-179037376
allele	C/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: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	chr5:178976906..178979400-chr5:179037284..179038987,2	K562	blood:
2	chr5:179036525..179040506-chr5:179125503..179127596,3	K562	blood:
3	chr5:179034167..179038139-chr5:179125249..179127406,3	MCF-7	breast:
4	chr5:178982934..178985451-chr5:179036566..179039640,3	K562	blood:
5	chr5:179032616..179037685-chr5:179101606..179106447,5	K562	blood:
6	chr5:179001446..179003213-chr5:179035112..179037785,2	K562	blood:
7	chr5:179034995..179037887-chr5:179124544..179128614,3	K562	blood:
8	chr5:179017199..179019587-chr5:179035470..179037928,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11541392	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541393	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159541	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178278	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13179100	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13179141	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13182022	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13188643	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189491	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052463	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28526620	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34155714	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360628	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34436769	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35654688	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66890351	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66946955	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66965803	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67550210	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67760891	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67772277	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67799282	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68054433	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73330342	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73330351	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73336105	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
3	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
5	chr5:179007400-179037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:179007400-179040200	Strong transcription	Placenta	Placenta
7	chr5:179007400-179045000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:179011200-179039000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:179011200-179043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:179012600-179037600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:179012800-179039000	Strong transcription	Left Ventricle	heart
14	chr5:179012800-179040000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:179013600-179037800	Strong transcription	Fetal Stomach	stomach
16	chr5:179013800-179044800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:179014000-179042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:179014000-179044400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:179016000-179041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:179016200-179045000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr5:179023200-179037800	Weak transcription	Fetal Heart	heart
23	chr5:179023400-179037800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:179025200-179045000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:179026600-179040600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:179027600-179039600	Weak transcription	Small Intestine	intestine
27	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:179028800-179037800	Strong transcription	NHLF	lung
31	chr5:179028800-179045000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr5:179029000-179038800	Strong transcription	Fetal Lung	lung
33	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
34	chr5:179030000-179037400	Weak transcription	Psoas Muscle	Psoas
35	chr5:179030000-179040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:179031000-179041000	Genic enhancers	Fetal Muscle Leg	muscle
37	chr5:179031000-179045600	Strong transcription	Osteobl	bone
38	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:179032200-179038800	Strong transcription	Pancreas	Pancrea
40	chr5:179032200-179039200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:179032400-179038400	Strong transcription	HepG2	liver
44	chr5:179032400-179039800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr5:179032600-179038600	Strong transcription	Liver	Liver
48	chr5:179032800-179045000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:179033200-179037600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum

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