Variant report

Variant	rs16893490
Chromosome Location	chr8:121076132-121076133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120879078..120879717-chr8:121075645..121076453,2	MCF-7	breast:
2	chr8:121075869..121078557-chr8:121082699..121085072,2	K562	blood:
3	chr8:120886721..120887327-chr8:121075612..121076412,2	MCF-7	breast:
4	chr8:120879060..120879989-chr8:121075627..121076580,4	MCF-7	breast:
5	chr8:121075759..121078514-chr8:121080982..121082619,2	K562	blood:
6	chr8:121075599..121077369-chr8:121083572..121085450,2	K562	blood:

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10086552	1.00[EUR][1000 genomes]
rs10089237	1.00[EUR][1000 genomes]
rs10090616	1.00[EUR][1000 genomes]
rs10091751	1.00[EUR][1000 genomes]
rs10093122	1.00[EUR][1000 genomes]
rs10095381	1.00[EUR][1000 genomes]
rs10096452	1.00[EUR][1000 genomes]
rs10098186	1.00[EUR][1000 genomes]
rs10098553	1.00[EUR][1000 genomes]
rs10101991	1.00[EUR][1000 genomes]
rs10106260	1.00[EUR][1000 genomes]
rs10109114	1.00[EUR][1000 genomes]
rs10109130	1.00[EUR][1000 genomes]
rs10109428	1.00[EUR][1000 genomes]
rs12335287	1.00[EUR][1000 genomes]
rs13438953	1.00[EUR][1000 genomes]
rs13439781	1.00[EUR][1000 genomes]
rs13439799	1.00[EUR][1000 genomes]
rs28417489	1.00[EUR][1000 genomes]
rs28419782	1.00[EUR][1000 genomes]
rs28436864	1.00[EUR][1000 genomes]
rs28540842	1.00[EUR][1000 genomes]
rs28564314	1.00[EUR][1000 genomes]
rs28584717	1.00[EUR][1000 genomes]
rs28609809	1.00[EUR][1000 genomes]
rs28661308	1.00[EUR][1000 genomes]
rs28666600	1.00[EUR][1000 genomes]
rs28707485	1.00[EUR][1000 genomes]
rs55926918	1.00[EUR][1000 genomes]
rs58796098	1.00[EUR][1000 genomes]
rs59336641	1.00[EUR][1000 genomes]
rs60228176	1.00[EUR][1000 genomes]
rs7016873	1.00[EUR][1000 genomes]
rs73704210	1.00[EUR][1000 genomes]
rs73704215	1.00[EUR][1000 genomes]
rs73704219	1.00[EUR][1000 genomes]
rs73704221	1.00[EUR][1000 genomes]
rs9987262	1.00[EUR][1000 genomes]
rs9987405	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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
2	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:121069600-121077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:121072600-121077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:121072800-121078000	Enhancers	Liver	Liver
10	chr8:121073200-121077200	Weak transcription	Fetal Lung	lung
11	chr8:121073200-121077400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:121073200-121077400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:121073200-121080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:121073200-121080800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:121073200-121081400	Weak transcription	Psoas Muscle	Psoas
16	chr8:121073400-121077200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:121073400-121077200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:121073400-121081800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:121073600-121077400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:121073600-121077400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:121073600-121077400	Weak transcription	Osteobl	bone
22	chr8:121073600-121079200	Weak transcription	NHEK	skin
23	chr8:121073600-121080000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:121073600-121080200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:121073600-121080200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:121074000-121077200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:121074200-121076600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:121074200-121077200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:121074200-121077200	Weak transcription	Fetal Kidney	kidney
30	chr8:121074200-121081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:121074400-121077200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:121074800-121077600	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:121075000-121077200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:121075400-121076200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:121075600-121077000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:121075600-121083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:121075600-121083000	Enhancers	Stomach Mucosa	stomach
38	chr8:121075600-121095800	Weak transcription	Gastric	stomach
39	chr8:121075800-121076200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:121076000-121077400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:121076000-121085400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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