Variant report

Variant	rs73089517
Chromosome Location	chr4:8463691-8463692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8448752..8450520-chr4:8461645..8464586,2	MCF-7	breast:
2	chr4:8455487..8458009-chr4:8461888..8464804,2	MCF-7	breast:
3	chr4:8457452..8459896-chr4:8461830..8464579,3	K562	blood:
4	chr4:8461947..8464709-chr4:8593943..8596548,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109625	Chromatin interaction
ENSG00000155275	Chromatin interaction
ENSG00000251186	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56727681	0.91[AFR][1000 genomes]
rs57791741	0.93[AFR][1000 genomes]
rs58254383	0.81[AFR][1000 genomes]
rs73076290	0.86[AFR][1000 genomes]
rs73076294	0.90[AFR][1000 genomes]
rs73087781	0.82[AFR][1000 genomes]
rs73089515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
2	chr4:8446600-8464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:8446600-8473400	Strong transcription	Dnd41	blood
4	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
5	chr4:8446800-8463800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:8447000-8464000	Strong transcription	Primary B cells from cord blood	blood
7	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
8	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:8447200-8464200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
15	chr4:8447600-8464000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:8447800-8463800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:8448200-8463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:8448200-8467400	Strong transcription	Adipose Nuclei	Adipose
22	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:8452600-8464200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:8452800-8463800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:8453000-8463800	Strong transcription	NHEK	skin
26	chr4:8454200-8464200	Strong transcription	Left Ventricle	heart
27	chr4:8456000-8469800	Weak transcription	Stomach Mucosa	stomach
28	chr4:8456200-8467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8456400-8467000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:8456800-8468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:8457000-8466200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:8457200-8464800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:8457200-8470600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:8457800-8470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:8458200-8465200	Weak transcription	NH-A	brain
36	chr4:8458200-8465200	Weak transcription	Osteobl	bone
37	chr4:8458200-8465800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:8458200-8472000	Weak transcription	Fetal Heart	heart
39	chr4:8458600-8467000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:8459000-8463800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:8459400-8464200	Strong transcription	Pancreas	Pancrea
42	chr4:8459400-8474000	Strong transcription	Fetal Intestine Small	intestine
43	chr4:8459600-8463800	Strong transcription	GM12878-XiMat	blood
44	chr4:8459600-8464200	Strong transcription	Right Ventricle	heart
45	chr4:8459600-8470000	Weak transcription	Fetal Brain Male	brain
46	chr4:8459800-8466800	Weak transcription	NHLF	lung
47	chr4:8459800-8478800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:8460000-8465400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:8460000-8466200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:8460000-8466200	Weak transcription	Colonic Mucosa	Colon

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