Variant report

Variant	rs10911610
Chromosome Location	chr1:184530491-184530492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184354217..184357197-chr1:184528030..184531247,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10399817	0.89[CHB][hapmap]
rs10489729	0.84[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs12097916	0.89[ASN][1000 genomes]
rs12117823	0.89[CHB][hapmap]
rs12120604	0.89[CHB][hapmap]
rs12121612	0.89[CHB][hapmap]
rs12127697	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs12129904	0.88[CHB][hapmap]
rs12138103	0.93[CHB][hapmap]
rs12141469	0.86[ASN][1000 genomes]
rs12143271	0.90[ASN][1000 genomes]
rs12239499	0.81[JPT][hapmap]
rs1535132	0.89[CHB][hapmap]
rs16823195	0.89[CHB][hapmap]
rs16823197	0.89[CHB][hapmap]
rs16823238	0.89[CHB][hapmap]
rs16823311	0.92[ASN][1000 genomes]
rs16823313	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs16823318	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs1969683	0.92[ASN][1000 genomes]
rs2180072	0.86[ASN][1000 genomes]
rs2207526	0.89[CHB][hapmap]
rs2207527	0.84[CHB][hapmap]
rs35682339	0.89[ASN][1000 genomes]
rs57780220	0.89[ASN][1000 genomes]
rs61643431	0.93[ASN][1000 genomes]
rs61825202	0.86[ASN][1000 genomes]
rs61825204	0.90[ASN][1000 genomes]
rs61825205	0.90[ASN][1000 genomes]
rs61825239	0.87[ASN][1000 genomes]
rs6659261	0.89[CHB][hapmap]
rs6669940	0.92[ASN][1000 genomes]
rs6683932	0.89[CHB][hapmap]
rs6693408	0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs6695173	0.81[JPT][hapmap]
rs7513091	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs7530615	0.92[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184505800-184530800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
3	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:184515200-184531200	Weak transcription	NHLF	lung
6	chr1:184520800-184542000	Weak transcription	Ovary	ovary
7	chr1:184521000-184535800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:184524600-184531200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:184525000-184546000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:184525200-184535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:184525400-184535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184525600-184536000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:184525600-184544000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:184525600-184545600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:184525800-184530800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:184525800-184531200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:184525800-184535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:184526200-184531200	Weak transcription	Fetal Heart	heart
20	chr1:184526400-184531400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:184526400-184531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:184526600-184535600	Weak transcription	Left Ventricle	heart
23	chr1:184527800-184530600	Weak transcription	Stomach Mucosa	stomach
24	chr1:184528400-184531400	Weak transcription	NHEK	skin
25	chr1:184528600-184531200	Weak transcription	HMEC	breast
26	chr1:184528600-184535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:184528600-184536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:184529200-184531000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:184529200-184535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:184529600-184530800	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:184529800-184532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:184530200-184530600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:184530200-184530600	Enhancers	Pancreas	Pancrea
34	chr1:184530200-184530800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:184530200-184531000	Enhancers	Esophagus	oesophagus
36	chr1:184530200-184531000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:184530200-184531200	Enhancers	Psoas Muscle	Psoas
38	chr1:184530200-184531800	Enhancers	Right Ventricle	heart
39	chr1:184530200-184532200	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:184530200-184532600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:184530200-184532800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:184530200-184533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:184530400-184530600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:184530400-184530600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:184530400-184531200	Enhancers	Right Atrium	heart
46	chr1:184530400-184531400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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