Variant report

Variant	rs1137567
Chromosome Location	chr14:42077288-42077289
allele	A/G
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	BACH1	chr14:42077018-42077656	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:42077101-42077704	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr14:42076900-42077739	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:42077288-42077496	MCF-7	breast:	n/a	n/a
5	RAD21	chr14:42077247-42077604	H1-hESC	embryonic stem cell:	n/a	chr14:42077567-42077580
6	SIN3A	chr14:42073598-42077869	H1-hESC	embryonic stem cell:	n/a	chr14:42077621-42077630 chr14:42076170-42076179 chr14:42075971-42075982
7	CTBP2	chr14:42074050-42077848	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:42075624-42077921	H1-neurons	neurons:	n/a	n/a
9	EGR1	chr14:42076888-42077415	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr14:42074960-42077937	H1-neurons	neurons:	n/a	chr14:42077585-42077598 chr14:42076936-42076956 chr14:42076170-42076180 chr14:42077503-42077513 chr14:42076268-42076278 chr14:42075096-42075104 chr14:42077314-42077327 chr14:42076038-42076056
11	POLR2A	chr14:42075639-42077939	H1-neurons	neurons:	n/a	n/a
12	YY1	chr14:42077067-42077391	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr14:42077159-42077359	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-2	chr14:42076764-42077765	NONHSAT036578

Variant related genes	Relation type
ENSG00000258636	TF binding region
LRFN5	TF binding region

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10131184	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10140527	0.92[CEU][hapmap]
rs10483526	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1111177	0.95[EUR][1000 genomes]
rs1111179	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11157240	0.86[EUR][1000 genomes]
rs11157241	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431444	0.94[EUR][1000 genomes]
rs12589043	0.84[EUR][1000 genomes]
rs1609735	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs17781288	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1950831	0.92[EUR][1000 genomes]
rs1950834	0.94[EUR][1000 genomes]
rs1950835	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1950836	0.85[EUR][1000 genomes]
rs1950838	0.93[EUR][1000 genomes]
rs1956450	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2121708	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4356390	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990286	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61990288	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61990289	0.94[EUR][1000 genomes]
rs6572099	0.92[EUR][1000 genomes]
rs7148091	0.93[EUR][1000 genomes]
rs72684563	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003822	0.91[EUR][1000 genomes]
rs8007172	0.90[EUR][1000 genomes]
rs8013655	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:42072000-42078000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:42073000-42079600	Active TSS	Right Atrium	heart
4	chr14:42073600-42078400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr14:42073600-42079800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:42073800-42077600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr14:42073800-42077800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr14:42073800-42077800	Bivalent/Poised TSS	Left Ventricle	heart
9	chr14:42074000-42077400	Bivalent/Poised TSS	Fetal Thymus	thymus
10	chr14:42074000-42077800	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr14:42074000-42078200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
12	chr14:42074200-42077600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:42074400-42077800	Bivalent/Poised TSS	NHLF	lung
14	chr14:42074800-42077800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr14:42074800-42079800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:42075000-42078200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr14:42075200-42077600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:42075200-42077800	Active TSS	Placenta Amnion	Placenta Amnion
19	chr14:42075200-42079200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr14:42075400-42077600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:42075400-42077800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:42075600-42077400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
23	chr14:42075600-42077600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr14:42075600-42077600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:42075600-42077800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:42076000-42077800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr14:42076000-42079800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr14:42076200-42077800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr14:42076200-42078000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr14:42076200-42078000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr14:42076200-42079600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr14:42076200-42079800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr14:42076400-42077400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:42076400-42077400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr14:42076400-42077400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
36	chr14:42076400-42077800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:42076400-42077800	Flanking Bivalent TSS/Enh	Placenta	Placenta
38	chr14:42076400-42077800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr14:42076400-42078000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:42076400-42078000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
41	chr14:42076400-42078600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:42076600-42077400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
43	chr14:42076600-42077600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:42076600-42077800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:42076600-42077800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr14:42076600-42077800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr14:42076600-42077800	Bivalent Enhancer	Spleen	Spleen
48	chr14:42076600-42078000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr14:42076800-42077400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr14:42076800-42077400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain

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