Variant report

Variant	rs73357587
Chromosome Location	chr14:105436831-105436832
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	POLR2A	chr14:105436619-105437315	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr14:105436654-105437350	ECC-1	luminal epithelium:	n/a	chr14:105436853-105436863
3	RCOR1	chr14:105436708-105437155	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:105431932-105437411	Hela-S3	cervix:	n/a	n/a
5	ELK1	chr14:105436691-105437204	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr14:105436389-105437591	A549	lung:	n/a	chr14:105436720-105436730
7	SIN3AK20	chr14:105436432-105436982	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr14:105436024-105437587	U87	brain:	n/a	n/a
9	ZBTB7A	chr14:105436634-105437576	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:105436232-105437581	U87	brain:	n/a	n/a
11	MYC	chr14:105436769-105437257	MCF10A-Er-Src	breast:	n/a	chr14:105436853-105436863
12	MAZ	chr14:105436578-105437350	IMR90	lung:	n/a	chr14:105436853-105436863
13	CHD2	chr14:105436669-105437276	Hela-S3	cervix:	n/a	chr14:105436885-105436895
14	POLR2A	chr14:105436624-105437354	SK-N-SH	brain:	n/a	n/a
15	SMC3	chr14:105436788-105437251	Hela-S3	cervix:	n/a	chr14:105436955-105436969
16	POLR2A	chr14:105436556-105437359	Gliobla	brain:	n/a	n/a
17	POLR2A	chr14:105436461-105437462	HUVEC	blood vessel:	n/a	n/a
18	ZBTB7A	chr14:105436444-105437396	ECC-1	luminal epithelium:	n/a	n/a
19	NR3C1	chr14:105436619-105437456	A549	lung:	n/a	chr14:105437097-105437106
20	POLR2A	chr14:105436728-105436858	K562	blood:	n/a	n/a
21	SIN3AK20	chr14:105436620-105436988	A549	lung:	n/a	n/a
22	POLR2A	chr14:105436511-105437341	HCT-116	colon:	n/a	n/a
23	CREB1	chr14:105436590-105437242	A549	lung:	n/a	n/a
24	MAX	chr14:105436639-105437370	SK-N-SH	brain:	n/a	chr14:105436853-105436863
25	STAT3	chr14:105436735-105437095	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:105436476-105437420	HUVEC	blood vessel:	n/a	n/a
27	ZNF143	chr14:105436724-105436839	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:105436531-105437372	HCT-116	colon:	n/a	n/a
29	FOS	chr14:105436793-105437299	HUVEC	blood vessel:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
30	POLR2A	chr14:105436214-105437362	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr14:105436109-105437492	HUVEC	blood vessel:	n/a	n/a
32	EP300	chr14:105436678-105437248	A549	lung:	n/a	chr14:105436961-105436974 chr14:105437216-105437230
33	FOS	chr14:105436811-105437290	MCF10A-Er-Src	breast:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
34	MAZ	chr14:105436750-105437247	K562	blood:	n/a	chr14:105436853-105436863
35	PBX3	chr14:105435169-105437493	A549	lung:	n/a	chr14:105435644-105435655 chr14:105436128-105436139
36	REST	chr14:105436593-105437158	A549	lung:	n/a	chr14:105436847-105436860 chr14:105436992-105437005 chr14:105436988-105437008
37	JUND	chr14:105436821-105437252	K562	blood:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
38	MAX	chr14:105436698-105437307	Hela-S3	cervix:	n/a	chr14:105436853-105436863
39	SP1	chr14:105436488-105437373	A549	lung:	n/a	chr14:105436883-105436895 chr14:105436968-105436978 chr14:105436883-105436895 chr14:105436967-105436979 chr14:105436967-105436979
40	FOSL2	chr14:105436682-105437249	A549	lung:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
41	TAF1	chr14:105436405-105437316	A549	lung:	n/a	n/a
42	MAX	chr14:105436780-105437236	A549	lung:	n/a	chr14:105436853-105436863
43	FOSL2	chr14:105436749-105437615	A549	lung:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
44	CTCF	chr14:105436827-105436872	NHEK	skin:	n/a	n/a
45	POLR2A	chr14:105436595-105437322	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr14:105436523-105437403	ECC-1	luminal epithelium:	n/a	chr14:105436720-105436730
47	JUND	chr14:105436383-105437394	A549	lung:	n/a	chr14:105437098-105437106 chr14:105437121-105437129
48	POLR2A	chr14:105430375-105441189	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr14:105436463-105437358	ECC-1	luminal epithelium:	n/a	n/a
50	FOS	chr14:105436827-105437247	MCF10A-Er-Src	breast:	n/a	chr14:105437098-105437106 chr14:105437121-105437129

No.	Distal block	Cell Line	Cell type
1	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:
2	chr1:32479162..32479871-chr14:105436817..105437592,2	HCT-116	colon:
3	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
4	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
5	chr14:105421158..105428529-chr14:105433571..105439933,9	MCF-7	breast:
6	chr14:104571753..104574483-chr14:105435348..105438320,2	MCF-7	breast:
7	chr14:105436785..105438892-chr14:105486187..105488298,2	MCF-7	breast:
8	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

Variant related genes	Relation type
AHNAK2	TF binding region
ENSG00000121774	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000166183	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000185567	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10133168	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138859	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582498	0.85[ASN][1000 genomes]
rs2819446	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819451	0.86[ASN][1000 genomes]
rs28375591	0.85[ASN][1000 genomes]
rs28583515	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73357588	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73357594	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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 target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105433600-105440200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:105433800-105437400	Flanking Active TSS	HUVEC	blood vessel
4	chr14:105434000-105437200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:105434000-105437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr14:105434200-105437600	Flanking Active TSS	HSMM	muscle
7	chr14:105434200-105438200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:105434400-105437600	Flanking Active TSS	Hela-S3	cervix
9	chr14:105434400-105443800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:105434600-105437400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:105434600-105437400	Flanking Active TSS	NHLF	lung
12	chr14:105434600-105439800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:105434600-105444000	Weak transcription	Aorta	Aorta
14	chr14:105434800-105439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:105435000-105439800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:105435200-105437000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr14:105435200-105438000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:105435200-105439000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:105435200-105439000	Weak transcription	Right Atrium	heart
20	chr14:105435200-105439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:105435200-105440400	Weak transcription	Right Ventricle	heart
22	chr14:105435200-105441200	Enhancers	Fetal Stomach	stomach
23	chr14:105435400-105437400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:105435400-105438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:105435400-105438800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:105435400-105439000	Weak transcription	Left Ventricle	heart
27	chr14:105435600-105437000	Active TSS	NHDF-Ad	bronchial
28	chr14:105435600-105438600	Weak transcription	Fetal Lung	lung
29	chr14:105435800-105437400	Weak transcription	Pancreas	Pancrea
30	chr14:105435800-105438000	Weak transcription	Fetal Intestine Large	intestine
31	chr14:105435800-105438800	Weak transcription	Ovary	ovary
32	chr14:105435800-105439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:105435800-105439600	Weak transcription	Spleen	Spleen
34	chr14:105435800-105442600	Weak transcription	K562	blood
35	chr14:105436000-105437000	Active TSS	NHEK	skin
36	chr14:105436000-105437200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:105436000-105437200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:105436000-105437200	Active TSS	Esophagus	oesophagus
39	chr14:105436000-105437600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:105436200-105437200	Active TSS	Rectal Smooth Muscle	rectum
41	chr14:105436400-105437000	Active TSS	A549	lung
42	chr14:105436400-105437000	Flanking Active TSS	NH-A	brain
43	chr14:105436400-105437200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:105436400-105437400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:105436400-105437400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:105436400-105437400	Flanking Active TSS	HMEC	breast
47	chr14:105436600-105437000	Enhancers	Brain Germinal Matrix	brain
48	chr14:105436600-105437000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr14:105436600-105437000	Active TSS	Colon Smooth Muscle	Colon
50	chr14:105436600-105437200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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