Variant report

Variant	rs41487450
Chromosome Location	chr14:31731789-31731790
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	EP300	chr14:31730029-31732034	HepG2	liver:	n/a	chr14:31730478-31730492 chr14:31730585-31730594 chr14:31731594-31731603 chr14:31730213-31730227
2	CREB1	chr14:31730740-31731879	HepG2	liver:	n/a	n/a
3	USF1	chr14:31731128-31732073	ECC-1	luminal epithelium:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
4	NFIC	chr14:31731007-31732370	ECC-1	luminal epithelium:	n/a	chr14:31731386-31731403
5	RAD21	chr14:31731059-31731805	HepG2	liver:	n/a	chr14:31731301-31731311
6	FOXM1	chr14:31731006-31732161	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr14:31731056-31732042	ECC-1	luminal epithelium:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
8	CEBPB	chr14:31731129-31732069	ECC-1	luminal epithelium:	n/a	n/a
9	MYBL2	chr14:31730056-31731936	HepG2	liver:	n/a	n/a
10	MBD4	chr14:31730483-31732362	HepG2	liver:	n/a	n/a
11	MAX	chr14:31731281-31731841	NB4	blood:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
12	EP300	chr14:31730882-31732261	ECC-1	luminal epithelium:	n/a	chr14:31731594-31731603
13	TEAD4	chr14:31729786-31732305	HepG2	liver:	n/a	n/a
14	TEAD4	chr14:31731163-31732186	ECC-1	luminal epithelium:	n/a	n/a
15	FOXA1	chr14:31730901-31731845	HepG2	liver:	n/a	n/a
16	MEF2A	chr14:31731256-31731790	GM12878	blood:	n/a	chr14:31731581-31731598
17	BHLHE40	chr14:31731065-31731817	GM12878	blood:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
18	TCF12	chr14:31730934-31731853	ECC-1	luminal epithelium:	n/a	chr14:31731588-31731597 chr14:31731352-31731362
19	EBF1	chr14:31731062-31732146	GM12878	blood:	n/a	n/a
20	STAT1	chr14:31731454-31731925	GM12878	blood:	n/a	chr14:31731596-31731604
21	EP300	chr14:31731336-31732037	GM12878	blood:	n/a	chr14:31731594-31731603
22	TEAD4	chr14:31731134-31732107	ECC-1	luminal epithelium:	n/a	n/a
23	BHLHE40	chr14:31731147-31731853	HepG2	liver:	n/a	chr14:31731486-31731495 chr14:31731487-31731496 chr14:31731485-31731494 chr14:31731486-31731495 chr14:31731480-31731501
24	FOXA1	chr14:31730958-31732380	HepG2	liver:	n/a	n/a
25	EP300	chr14:31731318-31731855	GM12878	blood:	n/a	chr14:31731594-31731603
26	MAX	chr14:31730792-31732105	HepG2	liver:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
27	MYBL2	chr14:31730006-31732211	HepG2	liver:	n/a	n/a
28	EP300	chr14:31730991-31731796	HepG2	liver:	n/a	chr14:31731594-31731603
29	NFIC	chr14:31730453-31732279	HepG2	liver:	n/a	chr14:31731386-31731403
30	MYC	chr14:31731012-31731794	NB4	blood:	n/a	chr14:31731485-31731496 chr14:31731486-31731495 chr14:31731484-31731492 chr14:31731484-31731497
31	CTCF	chr14:31731660-31731810	AG04449	skin:	n/a	n/a
32	FOXA1	chr14:31731072-31732368	HepG2	liver:	n/a	n/a
33	NFIC	chr14:31731008-31732170	ECC-1	luminal epithelium:	n/a	chr14:31731386-31731403
34	RFX5	chr14:31731077-31731814	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31731560..31733729-chr14:31736950..31739890,3	K562	blood:
2	chr14:31675532..31678117-chr14:31730710..31734144,6	MCF-7	breast:
3	chr14:31724753..31726781-chr14:31730030..31732709,2	MCF-7	breast:
4	chr14:31727752..31730526-chr14:31730596..31732491,2	K562	blood:
5	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199291	TF binding region
ENSG00000199291	Chromatin interaction
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10136337	1.00[AMR][1000 genomes]
rs10141190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141820	1.00[AMR][1000 genomes]
rs10147374	0.92[AFR][1000 genomes]
rs10150426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150443	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097773	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28413001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28508039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28715098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28789531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28867507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57371146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253152	0.92[AFR][1000 genomes]
rs73265488	1.00[AMR][1000 genomes]
rs73267405	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31726400-31736000	Enhancers	Liver	Liver
2	chr14:31727200-31735000	Weak transcription	Gastric	stomach
3	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
4	chr14:31730000-31733600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31730200-31732200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:31730200-31733000	Enhancers	NHDF-Ad	bronchial
7	chr14:31730400-31733400	Enhancers	Placenta	Placenta
8	chr14:31730400-31735800	Enhancers	NHLF	lung
9	chr14:31730600-31732000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:31730600-31732200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:31730600-31732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:31730600-31733200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:31730600-31733800	Enhancers	Fetal Lung	lung
14	chr14:31730600-31734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:31730600-31734200	Enhancers	Hela-S3	cervix
16	chr14:31730800-31731800	Enhancers	Stomach Smooth Muscle	stomach
17	chr14:31730800-31732000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:31730800-31732200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:31730800-31732200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:31730800-31732200	Enhancers	Esophagus	oesophagus
21	chr14:31730800-31732400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:31730800-31732400	Enhancers	Fetal Intestine Small	intestine
23	chr14:31730800-31733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:31730800-31733200	Enhancers	Right Atrium	heart
25	chr14:31730800-31733400	Enhancers	Adipose Nuclei	Adipose
26	chr14:31730800-31733400	Enhancers	Fetal Muscle Leg	muscle
27	chr14:31730800-31733400	Enhancers	Fetal Stomach	stomach
28	chr14:31730800-31734000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:31731000-31731800	Enhancers	Brain Substantia Nigra	brain
30	chr14:31731000-31731800	Enhancers	Fetal Heart	heart
31	chr14:31731000-31732200	Enhancers	Brain Anterior Caudate	brain
32	chr14:31731000-31732200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:31731000-31732200	Enhancers	Fetal Intestine Large	intestine
34	chr14:31731000-31732200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:31731000-31732400	Enhancers	Ovary	ovary
36	chr14:31731000-31732400	Enhancers	Psoas Muscle	Psoas
37	chr14:31731000-31732400	Enhancers	NH-A	brain
38	chr14:31731000-31733000	Enhancers	A549	lung
39	chr14:31731000-31733800	Enhancers	Osteobl	bone
40	chr14:31731000-31734000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:31731000-31734000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:31731000-31734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:31731000-31735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:31731000-31735600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:31731000-31735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:31731000-31735800	Enhancers	HMEC	breast
47	chr14:31731000-31736000	Enhancers	NHEK	skin
48	chr14:31731200-31732000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:31731400-31732200	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:31731400-31732200	Enhancers	Brain Hippocampus Middle	brain

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