Variant report

Variant	rs12100587
Chromosome Location	chr14:106004323-106004324
allele	G/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	CTCF	chr14:106004280-106004430	GM12870	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
2	CTCF	chr14:106004134-106004597	H1-hESC	embryonic stem cell:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
3	CTCF	chr14:106004024-106004791	GM12891	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
4	CTCF	chr14:106004260-106004410	GM06990	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
5	CTCF	chr14:106004300-106004450	AG09309	skin:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
6	CTCF	chr14:106004223-106004511	A549	lung:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
7	CTCF	chr14:106004280-106004430	HEK293	kidney:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
8	CTCF	chr14:106004300-106004450	GM12875	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
9	CTCF	chr14:106004215-106004513	Fibrobl	skin:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
10	CTCF	chr14:106004280-106004430	HAc	cerebellar:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
11	RFX5	chr14:106004201-106004420	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr14:106004229-106004510	GM13977	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
13	CTCF	chr14:106004280-106004430	HVMF	connective:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
14	SMC3	chr14:106004195-106004557	K562	blood:	n/a	chr14:106004375-106004389 chr14:106004245-106004255
15	RAD21	chr14:106004083-106004609	A549	lung:	n/a	chr14:106004513-106004527 chr14:106004245-106004255 chr14:106004374-106004393
16	CTCF	chr14:106004260-106004410	HEEpiC	esophagus:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
17	CTCF	chr14:106004280-106004430	HCFaa	heart:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
18	CTCF	chr14:106004041-106004928	GM19238	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
19	CTCF	chr14:106004300-106004450	HPAF	blood vessel:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
20	CTCF	chr14:106004300-106004450	RPTEC	kidney:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
21	IRF3	chr14:106004312-106004384	GM12878	blood:	n/a	n/a
22	CTCF	chr14:106004300-106004450	K562	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
23	RAD21	chr14:106004149-106004615	MCF-7	breast:	n/a	chr14:106004513-106004527 chr14:106004245-106004255 chr14:106004374-106004393
24	CTCF	chr14:106004280-106004430	GM06990	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
25	RAD21	chr14:106004197-106004535	HepG2	liver:	n/a	chr14:106004513-106004527 chr14:106004245-106004255 chr14:106004374-106004393
26	CTCF	chr14:106004068-106004546	GM19240	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
27	CTCF	chr14:106004268-106004508	HepG2	liver:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
28	CTCF	chr14:106004249-106004488	LNCaP	prostate:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
29	CTCF	chr14:106004320-106004470	A549	lung:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
30	CTCF	chr14:106004260-106004410	GM12864	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
31	RAD21	chr14:106004232-106004482	HepG2	liver:	n/a	chr14:106004245-106004255 chr14:106004374-106004393
32	RCOR1	chr14:106004161-106004496	HepG2	liver:	n/a	n/a
33	CTCF	chr14:106004212-106004507	ProgFib	skin:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
34	STAT1	chr14:106004246-106004506	GM12878	blood:	n/a	n/a
35	ZNF143	chr14:106004187-106004559	GM12878	blood:	n/a	chr14:106004346-106004356
36	CTCF	chr14:106004250-106004493	Hela-S3	cervix:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
37	CTCF	chr14:106004046-106004929	GM19239	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
38	CTCF	chr14:106004280-106004430	HMEC	breast:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
39	CTCF	chr14:106004300-106004450	BJ	skin:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
40	RAD21	chr14:106004285-106004501	K562	blood:	n/a	chr14:106004374-106004393
41	CTCF	chr14:106004280-106004430	GM12871	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
42	ZNF384	chr14:106004240-106004508	GM12878	blood:	n/a	n/a
43	CTCF	chr14:106004320-106004470	GM12867	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
44	ZNF143	chr14:106004215-106004535	K562	blood:	n/a	chr14:106004346-106004356
45	CTCF	chr14:106004280-106004430	HPAF	blood vessel:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
46	CTCF	chr14:106004196-106004772	Gliobla	brain:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
47	CTCF	chr14:106004300-106004450	GM12874	blood:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
48	CTCF	chr14:106004280-106004430	BJ	skin:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396
49	ZEB1	chr14:106004126-106004407	GM12878	blood:	n/a	chr14:106004268-106004275 chr14:106004289-106004296
50	CTCF	chr14:106004280-106004430	Caco-2	colon:	n/a	chr14:106004376-106004389 chr14:106004373-106004391 chr14:106004375-106004396

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105837227..105837796-chr14:106004257..106005020,2	MCF-7	breast:
2	chr14:106003924..106004853-chr14:106501128..106502045,2	K562	blood:

Variant related genes	Relation type
ATP5G1P1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10136015	0.80[ASN][1000 genomes]
rs10139300	0.82[ASN][1000 genomes]
rs10147392	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs10151805	0.82[ASN][1000 genomes]
rs11624007	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs11628497	0.82[ASN][1000 genomes]
rs12101234	0.92[ASN][1000 genomes]
rs12717698	0.84[ASN][1000 genomes]
rs12893999	0.82[ASN][1000 genomes]
rs13379293	0.88[ASN][1000 genomes]
rs28402171	0.84[ASN][1000 genomes]
rs28620005	0.94[ASN][1000 genomes]
rs35592422	0.90[ASN][1000 genomes]
rs4074937	0.90[ASN][1000 genomes]
rs56057552	0.96[ASN][1000 genomes]
rs7141834	0.85[ASN][1000 genomes]
rs73373742	0.94[ASN][1000 genomes]
rs8003942	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs8004007	0.82[ASN][1000 genomes]
rs8005568	0.86[CHB][hapmap];0.98[CHD][hapmap];0.82[ASN][1000 genomes]
rs8013827	0.86[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs8014913	0.84[ASN][1000 genomes]
rs8021330	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12100587	TECPR2	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105996200-106004400	Weak transcription	Right Atrium	heart
2	chr14:105996600-106004400	Weak transcription	Liver	Liver
3	chr14:105998200-106004400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:105999600-106004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:106003200-106005400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:106003600-106004400	Bivalent Enhancer	Placenta	Placenta
7	chr14:106003600-106004800	Enhancers	Spleen	Spleen
8	chr14:106003800-106004600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:106003800-106004800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
10	chr14:106004000-106004400	Bivalent Enhancer	Thymus	Thymus
11	chr14:106004000-106004600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:106004000-106004600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:106004000-106004600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:106004000-106004600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr14:106004000-106004600	Enhancers	Pancreas	Pancrea
16	chr14:106004000-106004800	Enhancers	Primary B cells from peripheral blood	blood
17	chr14:106004000-106004800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr14:106004000-106004800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:106004000-106004800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:106004000-106004800	Enhancers	Fetal Brain Male	brain
21	chr14:106004000-106004800	Enhancers	Dnd41	blood
22	chr14:106004200-106004400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:106004200-106004400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:106004200-106004400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:106004200-106004400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:106004200-106004400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr14:106004200-106004600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:106004200-106004600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr14:106004200-106004600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:106004200-106004600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:106004200-106004600	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr14:106004200-106004600	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr14:106004200-106004600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr14:106004200-106004600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:106004200-106004600	Enhancers	Right Ventricle	heart
36	chr14:106004200-106004800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:106004200-106004800	Enhancers	Brain Substantia Nigra	brain
38	chr14:106004200-106004800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr14:106004200-106004800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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