Variant report

Variant	rs13107986
Chromosome Location	chr4:144284526-144284527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144274310..144276106-chr4:144283049..144285599,2	MCF-7	breast:
2	chr4:144283863..144286903-chr4:144287176..144291126,4	K562	blood:
3	chr4:144257678..144260213-chr4:144284163..144287062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10461277	0.81[AMR][1000 genomes]
rs10461278	0.88[AMR][1000 genomes]
rs10461279	0.81[AMR][1000 genomes]
rs1108827	0.81[AMR][1000 genomes]
rs13104755	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105258	0.81[AMR][1000 genomes]
rs13116594	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13118809	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127055	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13130995	0.88[AMR][1000 genomes]
rs13137712	0.87[AMR][1000 genomes]
rs28410377	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34176541	0.81[AMR][1000 genomes]
rs34192902	0.93[AMR][1000 genomes]
rs34198661	0.88[AMR][1000 genomes]
rs34225955	0.81[AMR][1000 genomes]
rs34234071	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34398038	0.87[AMR][1000 genomes]
rs34583666	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589296	0.81[AMR][1000 genomes]
rs34652171	0.81[AMR][1000 genomes]
rs35027946	0.87[AMR][1000 genomes]
rs35095943	0.81[AMR][1000 genomes]
rs35549285	0.81[AMR][1000 genomes]
rs35909303	0.81[AMR][1000 genomes]
rs35971728	0.81[AMR][1000 genomes]
rs56085707	0.81[AMR][1000 genomes]
rs71610422	0.81[AMR][1000 genomes]
rs71610423	0.81[AMR][1000 genomes]
rs71610426	0.88[AMR][1000 genomes]
rs71610427	0.81[AMR][1000 genomes]
rs71610431	0.81[AMR][1000 genomes]
rs71610432	0.81[AMR][1000 genomes]
rs71610438	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71610439	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71610440	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71610442	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7663712	0.88[AMR][1000 genomes]
rs9637656	0.81[AMR][1000 genomes]
rs9991495	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
2	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:144276800-144284800	Weak transcription	Lung	lung
5	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
6	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
7	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
8	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
9	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
12	chr4:144281200-144284600	Weak transcription	Placenta	Placenta
13	chr4:144281200-144285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:144281200-144285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:144281200-144285400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:144281200-144290000	Weak transcription	Fetal Stomach	stomach
17	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
19	chr4:144281800-144286000	Enhancers	Brain Substantia Nigra	brain
20	chr4:144281800-144293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:144282000-144284800	Enhancers	Brain Angular Gyrus	brain
22	chr4:144282000-144291200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:144282200-144285600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:144282400-144284600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:144282400-144285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:144282600-144284600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:144282600-144285000	Enhancers	Small Intestine	intestine
28	chr4:144282600-144285200	Enhancers	Left Ventricle	heart
29	chr4:144282600-144286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:144282800-144284600	Enhancers	K562	blood
31	chr4:144282800-144284800	Enhancers	Brain Germinal Matrix	brain
32	chr4:144282800-144285400	Enhancers	Aorta	Aorta
33	chr4:144282800-144290600	Weak transcription	Fetal Lung	lung
34	chr4:144283000-144284600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:144283000-144284800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:144283000-144284800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr4:144283000-144285000	Weak transcription	Esophagus	oesophagus
38	chr4:144283000-144285800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:144283000-144286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:144283000-144290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:144283000-144290800	Weak transcription	Primary B cells from cord blood	blood
42	chr4:144283000-144290800	Weak transcription	Gastric	stomach
43	chr4:144283000-144291200	Weak transcription	Ovary	ovary
44	chr4:144283000-144293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:144283000-144295400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:144283200-144293400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:144283400-144285000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:144283800-144284600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:144283800-144285000	Enhancers	Skeletal Muscle Male	skeletal muscle

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