Variant report

Variant	rs4978844
Chromosome Location	chr9:110071183-110071184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110066546..110068820-chr9:110070099..110072888,2	K562	blood:
2	chr9:110069222..110072456-chr9:110073619..110076462,3	MCF-7	breast:
3	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:
4	chr9:110044399..110049612-chr9:110071012..110080286,12	K562	blood:
5	chr9:110070129..110072488-chr9:110081712..110083415,2	K562	blood:
6	chr9:110070353..110073170-chr9:110078217..110082315,4	MCF-7	breast:
7	chr9:110049581..110051989-chr9:110070046..110072937,2	MCF-7	breast:
8	chr9:110070283..110073210-chr9:110082560..110084216,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10119641	0.81[EUR][1000 genomes]
rs10521083	1.00[ASN][1000 genomes]
rs10732368	0.91[ASN][1000 genomes]
rs10739234	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10739237	0.82[ASN][1000 genomes]
rs10739238	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10759222	0.91[ASN][1000 genomes]
rs10759223	0.91[ASN][1000 genomes]
rs10759225	0.84[ASN][1000 genomes]
rs10759226	0.94[ASN][1000 genomes]
rs10759227	0.83[ASN][1000 genomes]
rs10816483	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10816486	0.91[ASN][1000 genomes]
rs10816487	0.90[ASN][1000 genomes]
rs10816492	0.84[ASN][1000 genomes]
rs10816493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10978798	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323808	0.94[ASN][1000 genomes]
rs1323809	0.84[ASN][1000 genomes]
rs1535765	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805332	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805334	1.00[ASN][1000 genomes]
rs1805335	0.94[ASN][1000 genomes]
rs1886134	1.00[ASN][1000 genomes]
rs1969798	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980725	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2005143	0.81[EUR][1000 genomes]
rs2147071	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147072	0.91[ASN][1000 genomes]
rs2417783	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2417785	0.94[ASN][1000 genomes]
rs3818367	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4278207	0.96[ASN][1000 genomes]
rs4625087	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4978404	1.00[ASN][1000 genomes]
rs4978406	1.00[ASN][1000 genomes]
rs4978849	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7019341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7025563	0.98[ASN][1000 genomes]
rs7029997	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7030169	0.96[ASN][1000 genomes]
rs7030555	0.96[ASN][1000 genomes]
rs7030631	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7031906	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7035611	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7035725	0.86[ASN][1000 genomes]
rs7036284	0.81[EUR][1000 genomes]
rs7038737	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7039041	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7040217	0.84[EUR][1000 genomes]
rs7041137	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7041497	1.00[ASN][1000 genomes]
rs7043962	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046950	0.96[ASN][1000 genomes]
rs7856112	0.94[ASN][1000 genomes]
rs7856227	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859769	0.94[ASN][1000 genomes]
rs817838	0.86[EUR][1000 genomes]
rs817839	0.86[EUR][1000 genomes]
rs817840	0.86[EUR][1000 genomes]
rs817841	0.85[EUR][1000 genomes]
rs817843	0.86[EUR][1000 genomes]
rs817844	0.86[EUR][1000 genomes]
rs817845	0.85[EUR][1000 genomes]
rs942292	0.94[ASN][1000 genomes]
rs942293	1.00[ASN][1000 genomes]
rs9969728	0.81[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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv519266	chr9:110049477-110085255	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110051600-110079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110057200-110079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:110057400-110074600	Weak transcription	Spleen	Spleen
4	chr9:110057400-110074800	Weak transcription	Psoas Muscle	Psoas
5	chr9:110058600-110074800	Weak transcription	Right Atrium	heart
6	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
7	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:110061600-110073400	Strong transcription	K562	blood
9	chr9:110062000-110076000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:110062000-110078000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:110062400-110077800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:110062400-110078600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:110062600-110078800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr9:110062800-110077600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:110063000-110073200	Strong transcription	GM12878-XiMat	blood
16	chr9:110063000-110077200	Strong transcription	A549	lung
17	chr9:110063000-110078200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr9:110063000-110079200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:110063200-110077400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:110063200-110077400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr9:110063200-110077800	Strong transcription	Placenta	Placenta
22	chr9:110063400-110071800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr9:110063400-110077800	Strong transcription	Fetal Lung	lung
24	chr9:110063600-110078600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:110063800-110073200	Strong transcription	NHLF	lung
26	chr9:110063800-110079200	Strong transcription	Osteobl	bone
27	chr9:110063800-110079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:110064000-110073000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:110064000-110074400	Strong transcription	HSMM	muscle
30	chr9:110064000-110074600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:110064000-110074600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:110064000-110085000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:110064200-110071800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr9:110065200-110089200	Strong transcription	Fetal Thymus	thymus
35	chr9:110065400-110071800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:110065400-110071800	Strong transcription	NH-A	brain
37	chr9:110065400-110077800	Strong transcription	Primary B cells from cord blood	blood
38	chr9:110065600-110098600	Strong transcription	Dnd41	blood
39	chr9:110065800-110071800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr9:110065800-110072000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:110066000-110072600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:110066200-110071800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:110066600-110071600	Strong transcription	HMEC	breast
44	chr9:110066800-110072000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr9:110066800-110072400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr9:110067000-110071400	Genic enhancers	HepG2	liver
47	chr9:110067000-110071600	Strong transcription	Fetal Muscle Leg	muscle
48	chr9:110067000-110071600	Strong transcription	Thymus	Thymus
49	chr9:110067000-110071800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:110067000-110072000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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