Variant report

Variant	rs7140227
Chromosome Location	chr14:105071735-105071736
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	REST	chr14:105071036-105071864	PANC-1	pancreas:	n/a	chr14:105071234-105071247 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
2	REST	chr14:105070747-105071761	PANC-1	pancreas:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
3	REST	chr14:105070637-105071754	H1-neurons	neurons:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
4	REST	chr14:105070774-105071774	PFSK-1	brain:	n/a	chr14:105071234-105071247 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
5	REST	chr14:105070647-105071745	HL-60	blood:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250
6	REST	chr14:105070727-105071810	ECC-1	luminal epithelium:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
7	REST	chr14:105070748-105071929	MCF-7	breast:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
8	REST	chr14:105070734-105071824	ECC-1	luminal epithelium:	n/a	chr14:105071234-105071247 chr14:105070752-105070762 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
9	REST	chr14:105070999-105071783	MCF-7	breast:	n/a	chr14:105071234-105071247 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
10	REST	chr14:105070781-105071845	HL-60	blood:	n/a	chr14:105071234-105071247 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751
11	REST	chr14:105070935-105071762	A549	lung:	n/a	chr14:105071234-105071247 chr14:105071237-105071250 chr14:105071230-105071250 chr14:105071744-105071754 chr14:105071231-105071249 chr14:105071232-105071242 chr14:105071230-105071244 chr14:105071486-105071494 chr14:105071230-105071250 chr14:105071230-105071250 chr14:105071236-105071245 chr14:105071234-105071247 chr14:105071241-105071250 chr14:105071737-105071751

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105071714-105071764	HAEpiC	amniotic membrane:	n/a
2	chr14:105071714-105071764	GM12878	blood:	n/a
3	chr14:105071714-105071764	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:105071695-105071745	SAEC	small airway:	n/a
5	chr14:105071714-105071764	HMEC	breast:	n/a
6	chr14:105071714-105071764	GM12891	blood:	n/a
7	chr14:105071695-105071745	AG04449	skin:	fetal
8	chr14:105071695-105071745	NHDF-neo	bronchial:	n/a
9	chr14:105071714-105071764	AG09309	skin:	n/a
10	chr14:105071714-105071764	NT2-D1	testis:	n/a
11	chr14:105071695-105071745	HMEC	breast:	n/a
12	chr14:105071714-105071764	SK-N-SH_RA	brain:	n/a
13	chr14:105071695-105071745	HRE	kidney:	n/a
14	chr14:105071714-105071764	BE2_C	brain:	n/a
15	chr14:105071695-105071745	U87	brain:	n/a
16	chr14:105071714-105071764	Hela-S3	cervix:	n/a
17	chr14:105071695-105071745	NB4	blood:	n/a
18	chr14:105071714-105071764	HL-60	blood:	n/a
19	chr14:105071714-105071764	Caco-2	colon:	n/a
20	chr14:105071695-105071745	HL-60	blood:	n/a
21	chr14:105071714-105071764	MCF-7	breast:	n/a
22	chr14:105071695-105071745	Caco-2	colon:	n/a
23	chr14:105071695-105071745	HIPEpiC	eye:	n/a
24	chr14:105071695-105071745	HRPEpiC	eye:	n/a
25	chr14:105071714-105071764	HIPEpiC	eye:	n/a
26	chr14:105071695-105071745	GM12892	blood:	n/a
27	chr14:105071714-105071764	ProgFib	skin:	n/a
28	chr14:105071695-105071745	NH-A	brain:	n/a
29	chr14:105071714-105071764	SK-N-MC	brain:	n/a
30	chr14:105071714-105071764	IMR90	lung:	fetal
31	chr14:105071714-105071764	HEK293	kidney:	embryo
32	chr14:105071695-105071745	NT2-D1	testis:	n/a
33	chr14:105071695-105071745	HPAEpiC	pulmonary alveolar:	n/a
34	chr14:105071695-105071745	ovcar-3	ovarian:	n/a
35	chr14:105071695-105071745	BJ	skin:	n/a
36	chr14:105071695-105071745	RPTEC	kidney:	n/a
37	chr14:105071714-105071764	HepG2	liver:	n/a
38	chr14:105071695-105071745	AG10803	skin:	n/a
39	chr14:105071695-105071745	AG09309	skin:	n/a
40	chr14:105071714-105071764	GM19239	blood:	n/a
41	chr14:105071695-105071745	IMR90	lung:	fetal
42	chr14:105071695-105071745	HNPCEpiC	eye:	n/a
43	chr14:105071695-105071745	GM06990	blood:	n/a
44	chr14:105071714-105071764	HRPEpiC	eye:	n/a
45	chr14:105071695-105071745	HepG2	liver:	n/a
46	chr14:105071714-105071764	Hepatocyte	liver:	n/a
47	chr14:105071695-105071745	CMK	blood:	n/a
48	chr14:105071714-105071764	HNPCEpiC	eye:	n/a
49	chr14:105071695-105071745	HCF	heart:	n/a
50	chr14:105071714-105071764	GM06990	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf180-2	chr14:105071099-105072888	NONHSAT040264

Variant related genes	Relation type
TMEM179	TF binding region
TMEM179	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1134959	0.88[EUR][1000 genomes]
rs1135470	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547184	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075515	1.00[CHB][hapmap]
rs4075661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55928927	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58541277	0.90[ASN][1000 genomes]
rs60794775	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149759	0.88[EUR][1000 genomes]
rs73361837	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73361863	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73361865	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015839	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021732	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022340	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised 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	98 gene(s)	inside rSNPs	diseases
2	nsv1051647	chr14:104983302-105153720	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv542223	chr14:104983302-105153720	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	esv1816766	chr14:105007585-105126354	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902373	chr14:105012858-105078153	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv470676	chr14:105023512-105100021	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv456445	chr14:105023512-105170003	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
9	nsv566047	chr14:105023512-105170003	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
11	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv1044032	chr14:105036464-105124567	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv902374	chr14:105045524-105119784	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv902375	chr14:105045524-105139894	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv902376	chr14:105066444-105100021	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv902377	chr14:105066885-105119784	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3338807	chr14:105069932-105072480	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105069000-105071800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr14:105069000-105071800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr14:105069400-105071800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:105070200-105071800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:105070600-105071800	Bivalent Enhancer	Placenta	Placenta
6	chr14:105070800-105071800	Active TSS	Brain Angular Gyrus	brain
7	chr14:105071000-105071800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr14:105071000-105071800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr14:105071000-105071800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:105071200-105071800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105071200-105071800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr14:105071200-105071800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr14:105071600-105071800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr14:105071600-105071800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:105071600-105071800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:105071600-105071800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:105071600-105071800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:105071600-105071800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr14:105071600-105072200	Bivalent Enhancer	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links