Variant report

Variant	rs10924984
Chromosome Location	chr1:247485932-247485933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247479235..247481801-chr1:247485562..247488525,3	K562	blood:
2	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
3	chr1:247484997..247486937-chr1:247500462..247503140,2	K562	blood:
4	chr1:247465500..247467787-chr1:247483881..247486302,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1057996	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732300	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10924980	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192835	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1192836	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239714	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846406	1.00[EUR][1000 genomes]
rs1771919	1.00[EUR][1000 genomes]
rs1771923	1.00[CEU][hapmap]
rs1771928	1.00[EUR][1000 genomes]
rs1771944	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771945	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771946	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778534	1.00[CEU][hapmap]
rs1778548	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891074	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793288	1.00[EUR][1000 genomes]
rs2799179	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501868	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4925535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56322743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178323	1.00[EUR][1000 genomes]
rs61276550	1.00[EUR][1000 genomes]
rs6657577	1.00[CEU][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669714	1.00[EUR][1000 genomes]
rs6671690	1.00[EUR][1000 genomes]
rs6676056	1.00[EUR][1000 genomes]
rs6689651	1.00[EUR][1000 genomes]
rs74152973	0.91[EUR][1000 genomes]
rs74152980	1.00[EUR][1000 genomes]
rs74152988	1.00[EUR][1000 genomes]
rs74152993	1.00[EUR][1000 genomes]
rs7517006	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947174	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	esv1848384	chr1:247485654-247495666	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247463000-247486200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:247463000-247486400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247463400-247486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:247463400-247486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:247464600-247486000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
16	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
18	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
20	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
22	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
23	chr1:247474000-247488200	Weak transcription	Gastric	stomach
24	chr1:247476600-247486600	Strong transcription	HepG2	liver
25	chr1:247476600-247491400	Strong transcription	Dnd41	blood
26	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:247478400-247486000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:247478400-247486800	Strong transcription	K562	blood
29	chr1:247479600-247487800	Strong transcription	Fetal Lung	lung
30	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
32	chr1:247481800-247487000	Strong transcription	Placenta	Placenta
33	chr1:247482000-247492600	Strong transcription	Liver	Liver
34	chr1:247482200-247486600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:247482200-247488600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:247482600-247486800	Strong transcription	HSMM	muscle
38	chr1:247482600-247487000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:247482600-247493400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:247482600-247493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:247482800-247486400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:247482800-247486800	Strong transcription	Osteobl	bone
43	chr1:247482800-247487000	Strong transcription	Brain Hippocampus Middle	brain
44	chr1:247482800-247487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:247482800-247487400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:247482800-247487400	Strong transcription	Fetal Intestine Large	intestine
47	chr1:247482800-247492400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:247482800-247493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:247482800-247493400	Strong transcription	A549	lung
50	chr1:247482800-247493600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links