Variant report

Variant	rs6576051
Chromosome Location	chr14:105045922-105045923
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	TCF12	chr14:105045671-105046851	ECC-1	luminal epithelium:	n/a	chr14:105046047-105046054 chr14:105046046-105046056 chr14:105046045-105046052 chr14:105046698-105046708
2	GATA2	chr14:105045722-105046203	SH-SY5Y	brain:	n/a	chr14:105045906-105045918 chr14:105045908-105045915 chr14:105045908-105045915 chr14:105045904-105045920 chr14:105045905-105045915 chr14:105045908-105045915
3	TEAD4	chr14:105045773-105046321	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr14:105045344-105046308	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr14:105045827-105046364	ECC-1	luminal epithelium:	n/a	chr14:105046335-105046346
6	EP300	chr14:105045536-105046522	SK-N-SH	brain:	n/a	chr14:105046366-105046379 chr14:105046371-105046380
7	ZBTB7A	chr14:105045606-105046494	ECC-1	luminal epithelium:	n/a	n/a
8	ESR1	chr14:105045829-105046308	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr14:105045706-105046380	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr14:105045592-105046893	ECC-1	luminal epithelium:	n/a	chr14:105046047-105046054 chr14:105046046-105046056 chr14:105046045-105046052 chr14:105046698-105046708
11	MAX	chr14:105045821-105046437	ECC-1	luminal epithelium:	n/a	chr14:105046335-105046346
12	EP300	chr14:105045847-105046417	ECC-1	luminal epithelium:	n/a	chr14:105046366-105046379 chr14:105046371-105046380
13	EP300	chr14:105045665-105046782	ECC-1	luminal epithelium:	n/a	chr14:105046366-105046379 chr14:105046371-105046380
14	TEAD4	chr14:105045804-105046315	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr14:105045633-105046588	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr14:105045687-105046512	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105045877-105045927	HNPCEpiC	eye:	n/a
2	chr14:105045877-105045927	SK-N-SH_RA	brain:	n/a
3	chr14:105045877-105045927	SK-N-SH	brain:	n/a
4	chr14:105045877-105045927	NHDF-neo	bronchial:	n/a
5	chr14:105045877-105045927	Hela-S3	cervix:	n/a
6	chr14:105045877-105045927	HMEC	breast:	n/a
7	chr14:105045877-105045927	LNCaP	prostate:	n/a
8	chr14:105045877-105045927	HEEpiC	esophagus:	n/a
9	chr14:105045877-105045927	Caco-2	colon:	n/a
10	chr14:105045877-105045927	HCPEpiC	choroid plexus:	n/a
11	chr14:105045877-105045927	NB4	blood:	n/a
12	chr14:105045877-105045927	AG04449	skin:	fetal
13	chr14:105045877-105045927	AG09319	gingival:	n/a
14	chr14:105045877-105045927	HRPEpiC	eye:	n/a
15	chr14:105045877-105045927	IMR90	lung:	fetal
16	chr14:105045877-105045927	HL-60	blood:	n/a
17	chr14:105045877-105045927	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:105045877-105045927	HRE	kidney:	n/a
19	chr14:105045877-105045927	GM19239	blood:	n/a
20	chr14:105045877-105045927	H1-hESC	embryonic stem cell:	embryo
21	chr14:105045877-105045927	ECC-1	luminal epithelium:	n/a
22	chr14:105045877-105045927	AoSMC	blood vessel:	n/a
23	chr14:105045877-105045927	NHBE	bronchial:	n/a
24	chr14:105045877-105045927	ProgFib	skin:	n/a
25	chr14:105045877-105045927	HCM	heart:	n/a
26	chr14:105045877-105045927	GM12891	blood:	n/a
27	chr14:105045877-105045927	HCF	heart:	n/a
28	chr14:105045877-105045927	Hepatocyte	liver:	n/a
29	chr14:105045877-105045927	CMK	blood:	n/a
30	chr14:105045877-105045927	GM12892	blood:	n/a
31	chr14:105045877-105045927	AG04450	lung:	fetal
32	chr14:105045877-105045927	MCF-7	breast:	n/a
33	chr14:105045877-105045927	PFSK-1	brain:	n/a
34	chr14:105045877-105045927	A549	lung:	n/a
35	chr14:105045877-105045927	SK-N-MC	brain:	n/a
36	chr14:105045877-105045927	HEK293	kidney:	embryo
37	chr14:105045877-105045927	HCT-116	colon:	n/a
38	chr14:105045877-105045927	NH-A	brain:	n/a
39	chr14:105045877-105045927	HepG2	liver:	n/a
40	chr14:105045877-105045927	HAEpiC	amniotic membrane:	n/a
41	chr14:105045877-105045927	GM06990	blood:	n/a
42	chr14:105045877-105045927	MCF10A-Er-Src	breast:	n/a
43	chr14:105045877-105045927	Jurkat	blood:	n/a
44	chr14:105045877-105045927	PANC-1	pancreas:	n/a
45	chr14:105045877-105045927	GM12878	blood:	n/a
46	chr14:105045877-105045927	K562	blood:	n/a
47	chr14:105045877-105045927	T-47D	breast:	n/a
48	chr14:105045877-105045927	HIPEpiC	eye:	n/a
49	chr14:105045877-105045927	HRCEpiC	kidney:	n/a
50	chr14:105045877-105045927	AG09309	skin:	n/a

Variant related genes	Relation type
C14orf180	TF binding region
C14orf180	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10132112	0.96[ASN][1000 genomes]
rs12589619	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12717694	1.00[ASN][1000 genomes]
rs35527175	0.98[ASN][1000 genomes]
rs4983500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7144467	0.97[ASN][1000 genomes]
rs7151177	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	esv2761599	chr14:104789113-105067734	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042527	chr14:104968968-105052401	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542222	chr14:104968968-105052401	Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv902371	chr14:105011436-105057102	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6576051	KLC1	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105033400-105046000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr14:105036600-105046200	Enhancers	Fetal Heart	heart
3	chr14:105038000-105051000	Enhancers	Fetal Intestine Large	intestine
4	chr14:105039800-105046400	Bivalent Enhancer	Placenta	Placenta
5	chr14:105040200-105048200	Enhancers	Fetal Brain Male	brain
6	chr14:105040200-105049800	Enhancers	Fetal Lung	lung
7	chr14:105040200-105050000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr14:105041000-105051200	Enhancers	Fetal Intestine Small	intestine
9	chr14:105041800-105046000	Enhancers	Right Ventricle	heart
10	chr14:105042600-105046200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr14:105042800-105047800	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr14:105042800-105048400	Enhancers	Brain Germinal Matrix	brain
13	chr14:105042800-105049800	Enhancers	Liver	Liver
14	chr14:105043000-105046400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:105043000-105047200	Enhancers	Fetal Brain Female	brain
16	chr14:105043200-105046000	Enhancers	Left Ventricle	heart
17	chr14:105043200-105046800	Weak transcription	Spleen	Spleen
18	chr14:105043200-105049400	Enhancers	Gastric	stomach
19	chr14:105043400-105049600	Enhancers	Psoas Muscle	Psoas
20	chr14:105043800-105046000	Enhancers	Right Atrium	heart
21	chr14:105044000-105047600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:105044400-105047400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:105044800-105053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:105045000-105046200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr14:105045000-105047800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:105045000-105048400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr14:105045000-105048400	Weak transcription	K562	blood
28	chr14:105045200-105046000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr14:105045200-105046200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:105045200-105046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:105045200-105046600	Enhancers	Pancreas	Pancrea
32	chr14:105045200-105050000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:105045400-105046000	Enhancers	Fetal Muscle Leg	muscle
34	chr14:105045400-105046400	Enhancers	Brain Anterior Caudate	brain
35	chr14:105045400-105046600	Bivalent Enhancer	HSMMtube	muscle
36	chr14:105045400-105049000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:105045600-105046400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:105045600-105047400	Enhancers	Colon Smooth Muscle	Colon
39	chr14:105045600-105049000	Enhancers	Colonic Mucosa	Colon
40	chr14:105045600-105049600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:105045600-105053200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:105045800-105046000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:105045800-105046400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr14:105045800-105046600	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr14:105045800-105046600	Bivalent Enhancer	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links