Variant report

Variant	rs4981369
Chromosome Location	chr14:21776520-21776521
allele	A/C
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21768791..21773432-chr14:21775011..21777048,5	MCF-7	breast:
2	chr14:21731798..21735401-chr14:21775005..21778167,4	MCF-7	breast:
3	chr14:21735883..21738830-chr14:21774715..21778854,7	MCF-7	breast:
4	chr14:21775706..21777351-chr14:21851149..21853404,2	MCF-7	breast:
5	chr14:21775315..21780554-chr14:21785592..21789539,5	K562	blood:
6	chr14:21736279..21738855-chr14:21774365..21778910,7	K562	blood:
7	chr14:21774765..21778578-chr14:21848688..21854259,7	MCF-7	breast:
8	chr14:21733893..21736248-chr14:21775936..21778469,3	K562	blood:
9	chr14:21734939..21739093-chr14:21774613..21780791,11	K562	blood:
10	chr14:21775799..21777853-chr14:21792862..21795336,2	MCF-7	breast:
11	chr14:21698305..21701103-chr14:21775340..21777251,2	MCF-7	breast:
12	chr14:21776403..21778650-chr14:21847769..21849405,2	K562	blood:
13	chr14:21730115..21732637-chr14:21776169..21779224,3	MCF-7	breast:
14	chr14:21730591..21733022-chr14:21775297..21777656,3	K562	blood:
15	chr14:21775315..21780588-chr14:21785592..21789606,7	K562	blood:
16	chr14:21775709..21778456-chr14:21815008..21816691,2	MCF-7	breast:
17	chr14:21774301..21777973-chr14:21828099..21831298,3	K562	blood:
18	chr14:21673277..21675794-chr14:21775419..21778094,2	MCF-7	breast:
19	chr14:21725317..21729371-chr14:21774547..21778706,6	K562	blood:
20	chr14:21735133..21741012-chr14:21774869..21780347,13	MCF-7	breast:
21	chr14:21715916..21717624-chr14:21774839..21777114,2	MCF-7	breast:
22	chr14:21770316..21772335-chr14:21774235..21777152,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092200	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000258441	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131759	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10138029	0.97[ASN][1000 genomes]
rs10142653	0.97[ASN][1000 genomes]
rs10152068	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11620670	0.98[ASN][1000 genomes]
rs11620900	0.96[ASN][1000 genomes]
rs11847385	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11847506	0.82[EUR][1000 genomes]
rs12433536	0.83[CEU][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12433693	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12586823	0.94[ASN][1000 genomes]
rs12883358	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12888713	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17197079	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17792617	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1957413	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1957414	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874061	0.92[ASN][1000 genomes]
rs28757752	0.93[ASN][1000 genomes]
rs34053371	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3748357	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3748358	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4468516	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4981368	0.83[CEU][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4981370	1.00[ASN][1000 genomes]
rs4981371	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4982439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4982440	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7147638	0.95[ASN][1000 genomes]
rs7147689	0.96[ASN][1000 genomes]
rs7149546	0.95[ASN][1000 genomes]
rs7153570	1.00[ASN][1000 genomes]
rs7154575	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7154879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs762069	0.96[ASN][1000 genomes]
rs8008315	0.93[ASN][1000 genomes]
rs8009616	0.96[ASN][1000 genomes]
rs8010980	0.96[ASN][1000 genomes]
rs8018562	0.97[ASN][1000 genomes]
rs8021536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4981369	RNASE6	cis	cerebellum	SCAN
rs4981369	EDDM3A	cis	parietal	SCAN
rs4981369	LTB4R	cis	cerebellum	SCAN
rs4981369	SNORD8	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21767600-21776600	Weak transcription	Placenta	Placenta
2	chr14:21770600-21776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:21771600-21776600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:21775000-21776600	Enhancers	Stomach Mucosa	stomach
5	chr14:21775400-21776600	Enhancers	Fetal Intestine Large	intestine
6	chr14:21775600-21776600	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:21775800-21776600	Enhancers	Fetal Intestine Small	intestine
8	chr14:21775800-21776800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:21775800-21776800	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:21776000-21776800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr14:21776000-21777000	Flanking Active TSS	Fetal Heart	heart
12	chr14:21776000-21777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:21776000-21777600	Flanking Active TSS	HepG2	liver
14	chr14:21776200-21776600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:21776200-21776600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:21776200-21776600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:21776200-21776600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:21776200-21776600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:21776200-21776600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:21776200-21776600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:21776200-21776600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:21776200-21776600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:21776200-21776600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:21776200-21776600	Enhancers	Adipose Nuclei	Adipose
25	chr14:21776200-21776600	Enhancers	Brain Hippocampus Middle	brain
26	chr14:21776200-21776600	Enhancers	Fetal Kidney	kidney
27	chr14:21776200-21776600	Enhancers	Fetal Thymus	thymus
28	chr14:21776200-21776600	Enhancers	Psoas Muscle	Psoas
29	chr14:21776200-21776600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:21776200-21776600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr14:21776200-21776600	Flanking Active TSS	A549	lung
32	chr14:21776200-21776800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:21776200-21776800	Flanking Active TSS	Liver	Liver
34	chr14:21776200-21776800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:21776200-21776800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:21776200-21776800	Flanking Active TSS	K562	blood
37	chr14:21776200-21777000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:21776200-21777000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr14:21776200-21777000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:21776200-21777600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:21776200-21777600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr14:21776200-21777600	Active TSS	Rectal Smooth Muscle	rectum
43	chr14:21776200-21777600	Enhancers	Small Intestine	intestine
44	chr14:21776400-21776600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:21776400-21776600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:21776400-21776600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:21776400-21776600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:21776400-21776600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr14:21776400-21776600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:21776400-21776600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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