Variant report

Variant	rs58204331
Chromosome Location	chr14:31599278-31599279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr14:31599198-31599332	HepG2	liver:	n/a	n/a
2	MAFK	chr14:31599143-31599343	HepG2	liver:	n/a	n/a
3	MAFK	chr14:31599141-31599407	HepG2	liver:	n/a	n/a
4	GATA3	chr14:31599122-31599286	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31592178..31594075-chr14:31598650..31601042,2	K562	blood:

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11620816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11622403	0.93[EUR][1000 genomes]
rs11624437	0.80[EUR][1000 genomes]
rs11625570	0.94[EUR][1000 genomes]
rs11625798	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11626343	0.94[EUR][1000 genomes]
rs11628852	0.80[EUR][1000 genomes]
rs11628884	0.80[EUR][1000 genomes]
rs11845860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848094	0.97[EUR][1000 genomes]
rs11848563	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17097688	0.86[EUR][1000 genomes]
rs17097735	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097743	1.00[EUR][1000 genomes]
rs34039100	0.90[EUR][1000 genomes]
rs34684806	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34745649	0.94[EUR][1000 genomes]
rs3954287	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45610935	0.91[EUR][1000 genomes]
rs55788541	0.80[EUR][1000 genomes]
rs55907561	0.86[EUR][1000 genomes]
rs56168081	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56346233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57000706	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57893693	0.94[EUR][1000 genomes]
rs58071351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58771204	0.91[EUR][1000 genomes]
rs59458716	0.94[EUR][1000 genomes]
rs59933112	0.93[EUR][1000 genomes]
rs60350855	0.93[EUR][1000 genomes]
rs60928004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61592116	0.93[EUR][1000 genomes]
rs66528205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67960414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72670320	0.80[EUR][1000 genomes]
rs72670323	0.80[EUR][1000 genomes]
rs72670334	0.88[EUR][1000 genomes]
rs72670351	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670364	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670371	0.94[EUR][1000 genomes]
rs72670374	0.94[EUR][1000 genomes]
rs72670375	0.94[EUR][1000 genomes]
rs72670377	0.94[EUR][1000 genomes]
rs72670385	0.94[EUR][1000 genomes]
rs72670390	0.94[EUR][1000 genomes]
rs72670391	0.94[EUR][1000 genomes]
rs72670396	0.94[EUR][1000 genomes]
rs72670398	0.91[EUR][1000 genomes]
rs72670399	0.94[EUR][1000 genomes]
rs9888564	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
7	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3345810	chr14:31599017-31622767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
7	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr14:31567000-31651200	Strong transcription	Dnd41	blood
11	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
12	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:31577200-31604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
18	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:31592400-31600000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:31592400-31607200	Weak transcription	Fetal Heart	heart
22	chr14:31593400-31600600	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:31593600-31604600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:31593800-31599400	Strong transcription	Fetal Stomach	stomach
25	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:31594200-31599400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:31594600-31604400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:31595200-31602800	Strong transcription	Fetal Kidney	kidney
32	chr14:31595200-31605800	Strong transcription	HMEC	breast
33	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:31595600-31599400	Strong transcription	Left Ventricle	heart
35	chr14:31595800-31599400	Strong transcription	Brain Hippocampus Middle	brain
36	chr14:31595800-31600000	Strong transcription	NHEK	skin
37	chr14:31595800-31600800	Strong transcription	HUVEC	blood vessel
38	chr14:31595800-31610000	Strong transcription	Fetal Thymus	thymus
39	chr14:31596600-31606600	Strong transcription	Hela-S3	cervix
40	chr14:31596800-31606000	Strong transcription	HSMM	muscle
41	chr14:31597000-31600200	Strong transcription	K562	blood
42	chr14:31597000-31609800	Strong transcription	Primary B cells from cord blood	blood
43	chr14:31597000-31616200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:31597200-31599400	Strong transcription	Brain Germinal Matrix	brain
45	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:31598000-31602600	Weak transcription	Right Atrium	heart
47	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:31598200-31602400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:31598200-31609800	Strong transcription	Primary T cells from cord blood	blood
50	chr14:31598200-31633200	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links