Variant report

Variant	rs1137514
Chromosome Location	chr8:1729514-1729515
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1716816..1721615-chr8:1726505..1732038,6	K562	blood:
2	chr8:1683305..1684236-chr8:1728901..1729771,3	MCF-7	breast:
3	chr8:1725330..1728287-chr8:1728724..1731820,3	K562	blood:
4	chr8:1683449..1684285-chr8:1729073..1729982,8	K562	blood:
5	chr8:1691178..1695166-chr8:1727484..1730315,3	MCF-7	breast:
6	chr8:1681316..1685438-chr8:1724958..1729595,5	K562	blood:
7	chr8:1678487..1679403-chr8:1728856..1729643,2	K562	blood:
8	chr8:1727131..1730202-chr8:1731838..1734952,3	K562	blood:
9	chr8:1728494..1731142-chr8:1732363..1735530,3	MCF-7	breast:
10	chr8:1683298..1684246-chr8:1728731..1730059,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10089222	0.86[AMR][1000 genomes]
rs10097891	0.82[AMR][1000 genomes]
rs10100341	0.81[AMR][1000 genomes]
rs11136424	0.81[AMR][1000 genomes]
rs3812477	0.80[AMR][1000 genomes]
rs4875958	0.81[AMR][1000 genomes]
rs7014327	0.81[AMR][1000 genomes]
rs7461159	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
15	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv932825	chr8:1719042-1736355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1137514	CTD-2336O2.1	cis	Nerve Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
2	chr8:1713600-1729600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:1714000-1729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:1717600-1731000	Weak transcription	Fetal Lung	lung
5	chr8:1718000-1732400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:1718000-1732800	Weak transcription	Fetal Heart	heart
7	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:1718400-1733200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:1721400-1733800	Weak transcription	Hela-S3	cervix
10	chr8:1721600-1732800	Weak transcription	Right Atrium	heart
11	chr8:1721600-1734200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:1721800-1734000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:1722000-1730000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:1722000-1730200	Weak transcription	HUVEC	blood vessel
15	chr8:1722000-1730600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:1722000-1731000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:1722000-1734000	Weak transcription	Ovary	ovary
18	chr8:1722200-1734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:1722800-1734200	Weak transcription	Colonic Mucosa	Colon
20	chr8:1723200-1731200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:1724800-1731200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:1724800-1733200	Weak transcription	Brain Germinal Matrix	brain
23	chr8:1725000-1730400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:1725200-1730600	Weak transcription	Fetal Brain Female	brain
25	chr8:1725200-1730800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:1725200-1731000	Weak transcription	Aorta	Aorta
27	chr8:1725400-1730800	Weak transcription	Primary T cells from cord blood	blood
28	chr8:1725600-1734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:1725800-1729600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:1725800-1731000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:1726200-1729800	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:1726800-1731000	Weak transcription	Primary B cells from cord blood	blood
33	chr8:1726800-1734000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:1727000-1730000	Weak transcription	Right Ventricle	heart
35	chr8:1727200-1730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:1727600-1730000	Weak transcription	Left Ventricle	heart
37	chr8:1727600-1730200	Enhancers	Brain Anterior Caudate	brain
38	chr8:1727800-1732200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:1728000-1730000	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr8:1728000-1730000	Weak transcription	NHEK	skin
41	chr8:1728000-1735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:1728000-1736000	Weak transcription	Psoas Muscle	Psoas
43	chr8:1728200-1729600	Genic enhancers	Fetal Intestine Small	intestine
44	chr8:1728200-1730400	Weak transcription	K562	blood
45	chr8:1728200-1731200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:1728200-1732000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:1728200-1732000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:1728200-1732800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:1728200-1733400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:1728200-1735400	Weak transcription	Small Intestine	intestine

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