Variant report

Variant	rs74163745
Chromosome Location	chr1:247456948-247456949
allele	-/ATAAATAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247455319..247457914-chr1:247494277..247496616,2	MCF-7	breast:
2	chr1:247456054..247458907-chr1:247476595..247478143,2	K562	blood:
3	chr1:247455456..247457066-chr1:247457256..247459121,2	K562	blood:
4	chr1:247456296..247458047-chr1:247490288..247491803,2	K562	blood:

Variant related genes	Relation type
ENSG00000162714	Chromatin interaction
ENSG00000202079	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10754544	0.84[EUR][1000 genomes]
rs10924983	0.83[EUR][1000 genomes]
rs11578583	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1192830	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1192831	0.80[ASN][1000 genomes]
rs1192832	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1204493	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1616299	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1771943	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1771948	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1778544	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1778546	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2153631	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850824	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320815	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4925532	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4925533	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4925534	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4925615	0.83[ASN][1000 genomes]
rs56037169	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56399534	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6692645	0.85[EUR][1000 genomes]
rs7528202	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7552292	0.85[EUR][1000 genomes]
rs875883	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9426180	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9426181	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9426182	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9725334	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][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	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
2	chr1:247449200-247462000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:247449400-247460800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:247449600-247462400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:247451000-247460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:247451600-247460400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:247452400-247460800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:247452600-247460800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:247452600-247461200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:247452800-247462000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:247453000-247460800	Weak transcription	Fetal Brain Female	brain
12	chr1:247453000-247462000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:247453200-247460400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:247453400-247462000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:247453400-247463000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:247454200-247462600	Weak transcription	Pancreas	Pancrea
17	chr1:247454400-247457600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:247454400-247461800	Enhancers	Fetal Thymus	thymus
19	chr1:247454600-247458000	Enhancers	K562	blood
20	chr1:247454800-247458400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:247454800-247458400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:247454800-247459800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:247455000-247457800	Enhancers	Placenta	Placenta
24	chr1:247455000-247458400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:247455000-247460000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:247455000-247470400	Weak transcription	Fetal Brain Male	brain
27	chr1:247455200-247457800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:247455200-247460000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:247455200-247460200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:247455200-247461000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:247455200-247463000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:247455400-247459800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:247455400-247461200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:247455600-247457000	Weak transcription	Thymus	Thymus
35	chr1:247455600-247457800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:247455600-247459000	Enhancers	NH-A	brain
37	chr1:247455600-247462600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:247455800-247459000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:247455800-247459800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:247455800-247460800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:247455800-247462200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:247455800-247462600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:247455800-247464200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:247456000-247462000	Weak transcription	Lung	lung
45	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
46	chr1:247456200-247457000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:247456200-247459200	Enhancers	Osteobl	bone
48	chr1:247456200-247460800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:247456200-247462200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:247456600-247458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links