Variant report

Variant	rs12433009
Chromosome Location	chr14:104196405-104196406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:104196369-104197299	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:104195642-104197521	SK-N-MC	brain:	n/a	n/a
3	GATA1	chr14:104195840-104197648	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103986881..103989564-chr14:104195653..104197565,2	K562	blood:
2	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
3	chr14:104191628..104193372-chr14:104193675..104196538,2	K562	blood:
4	chr14:104196055..104198700-chr14:104202542..104204837,2	K562	blood:
5	chr14:104182057..104182674-chr14:104195813..104196536,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL049840.1-2	chr14:104195428-104197782	NONHSAT040207

No data

Variant related genes	Relation type
ENSG00000253096	TF binding region
ZFYVE21	TF binding region
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000253096	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11627258	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12437066	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2144079	0.81[AMR][1000 genomes]
rs2144080	0.81[AMR][1000 genomes]
rs2295140	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2295147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295148	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295151	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2368558	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2368559	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4906368	0.82[AMR][1000 genomes]
rs7141928	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs941473	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs941474	0.89[EUR][1000 genomes]
rs941475	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS 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
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers 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 miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv902309	chr14:104143385-104198251	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv902310	chr14:104143385-104205811	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
13	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902311	chr14:104148339-104205811	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
15	nsv902312	chr14:104155317-104211180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv527425	chr14:104162263-104198251	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv470673	chr14:104162263-104219949	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12433009	RP11-73M18.8	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104183400-104200600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:104184000-104201200	Weak transcription	HUVEC	blood vessel
3	chr14:104184000-104209000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:104184200-104214400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:104184400-104211000	Weak transcription	Hela-S3	cervix
6	chr14:104189400-104203200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:104190600-104198800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:104190600-104199600	Strong transcription	Dnd41	blood
9	chr14:104190600-104202000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:104190800-104198400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:104190800-104204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:104191000-104202000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:104191000-104202200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:104191000-104203200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:104191200-104209200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:104191400-104201400	Strong transcription	Fetal Stomach	stomach
17	chr14:104191400-104201600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:104191600-104197400	Genic enhancers	Right Ventricle	heart
19	chr14:104191600-104223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:104191800-104197000	Weak transcription	Right Atrium	heart
21	chr14:104191800-104201600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:104192000-104197200	Strong transcription	Adipose Nuclei	Adipose
23	chr14:104192000-104201000	Strong transcription	NHLF	lung
24	chr14:104192200-104198000	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr14:104192200-104199200	Strong transcription	NHEK	skin
26	chr14:104192200-104200400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:104192200-104201000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:104192200-104201600	Strong transcription	Placenta	Placenta
29	chr14:104192200-104216600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:104192400-104196600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:104192400-104197200	Strong transcription	Rectal Smooth Muscle	rectum
32	chr14:104192400-104198400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:104193200-104200000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:104193400-104201400	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:104193800-104197000	Genic enhancers	Gastric	stomach
36	chr14:104193800-104197400	Genic enhancers	Esophagus	oesophagus
37	chr14:104194000-104196600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr14:104194000-104196800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr14:104194000-104196800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:104194000-104197000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:104194000-104198200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:104194000-104198800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:104194000-104199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:104194000-104200200	Strong transcription	Aorta	Aorta
45	chr14:104194000-104200400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:104194000-104201000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:104194000-104201600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:104194000-104209200	Strong transcription	Fetal Intestine Large	intestine
49	chr14:104194200-104196600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:104194200-104196800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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