Variant report

Variant	rs58217279
Chromosome Location	chr8:126163557-126163558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126159964..126163627-chr8:126168529..126173031,5	MCF-7	breast:
2	chr8:126162166..126164935-chr8:126168920..126171505,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16900320	1.00[EUR][1000 genomes]
rs28392978	1.00[EUR][1000 genomes]
rs56117234	1.00[EUR][1000 genomes]
rs56798105	1.00[EUR][1000 genomes]
rs56988673	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57107402	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs57708414	1.00[EUR][1000 genomes]
rs57876250	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs59134934	1.00[EUR][1000 genomes]
rs59472229	1.00[EUR][1000 genomes]
rs59652837	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs60361771	1.00[EUR][1000 genomes]
rs60524861	1.00[EUR][1000 genomes]
rs6992378	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6992389	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	1.00[EUR][1000 genomes]
rs7814242	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7820192	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7825375	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:126138200-126170400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
11	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
13	chr8:126143400-126163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:126143800-126163800	Weak transcription	Fetal Lung	lung
15	chr8:126144600-126163800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:126144600-126168000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:126154000-126175600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:126154400-126166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:126155800-126175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:126156600-126163800	Weak transcription	HMEC	breast
21	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:126156600-126185400	Weak transcription	Lung	lung
23	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:126156800-126163800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:126156800-126164000	Weak transcription	K562	blood
26	chr8:126156800-126172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:126157000-126170400	Weak transcription	Fetal Thymus	thymus
28	chr8:126157000-126172400	Weak transcription	Brain Anterior Caudate	brain
29	chr8:126157200-126164000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:126157200-126172400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:126157600-126172400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:126157600-126172400	Weak transcription	Brain Substantia Nigra	brain
34	chr8:126157800-126165200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:126157800-126167000	Weak transcription	Liver	Liver
36	chr8:126158000-126163600	Weak transcription	Stomach Mucosa	stomach
37	chr8:126158200-126170600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:126158600-126163800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:126158600-126164000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr8:126158600-126164000	Weak transcription	Primary T cells from cord blood	blood
42	chr8:126158600-126164000	Weak transcription	Fetal Intestine Small	intestine
43	chr8:126158600-126164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:126158600-126172600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:126158600-126173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
48	chr8:126158800-126163600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:126158800-126163800	Weak transcription	Fetal Intestine Large	intestine
50	chr8:126158800-126164400	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links