Variant report

Variant	rs73251579
Chromosome Location	chr5:114506628-114506629
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	HA-E2F1	chr5:114504600-114507035	MCF-7	breast:	n/a	chr5:114505148-114505160 chr5:114505940-114505950 chr5:114506565-114506579 chr5:114506232-114506242 chr5:114506184-114506193
2	E2F6	chr5:114504890-114506654	H1-hESC	embryonic stem cell:	n/a	chr5:114505148-114505160 chr5:114505940-114505950 chr5:114506565-114506579 chr5:114506232-114506242 chr5:114506184-114506193
3	MAX	chr5:114505049-114506763	MCF-7	breast:	n/a	chr5:114505836-114505846 chr5:114505785-114505792 chr5:114506464-114506474
4	MYC	chr5:114504929-114506946	NB4	blood:	n/a	chr5:114505836-114505846 chr5:114505785-114505792 chr5:114506464-114506474
5	MXI1	chr5:114504717-114506647	IMR90	lung:	n/a	chr5:114505673-114505688 chr5:114505675-114505690
6	CTCF	chr5:114506520-114506670	HBMEC	blood vessel:	n/a	n/a
7	ZBTB7A	chr5:114504758-114506729	ECC-1	luminal epithelium:	n/a	n/a
8	SIN3A	chr5:114504585-114506905	H1-hESC	embryonic stem cell:	n/a	chr5:114505565-114505576 chr5:114505804-114505815
9	POLR2A	chr5:114505167-114506968	SK-N-MC	brain:	n/a	n/a
10	ZBTB7A	chr5:114504766-114506708	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:114504761-114506919	NB4	blood:	n/a	n/a
12	MXI1	chr5:114506226-114506629	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr5:114504939-114506633	A549	lung:	n/a	chr5:114505836-114505846 chr5:114505785-114505792 chr5:114506464-114506474
14	MAX	chr5:114504652-114506973	NB4	blood:	n/a	chr5:114505836-114505846 chr5:114505785-114505792 chr5:114506464-114506474
15	RCOR1	chr5:114506624-114506674	GM12878	blood:	n/a	n/a
16	MXI1	chr5:114504459-114507462	SK-N-SH	brain:	n/a	chr5:114505673-114505688 chr5:114505675-114505690
17	POLR2A	chr5:114504847-114507120	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114504828..114507303-chr5:114508620..114510973,3	MCF-7	breast:
2	chr5:114504108..114507715-chr5:114515140..114518807,4	MCF-7	breast:
3	chr5:114504319..114509129-chr5:114509356..114517256,16	MCF-7	breast:
4	chr5:114505970..114507896-chr5:114509375..114511421,2	K562	blood:
5	chr5:114432281..114434501-chr5:114505854..114507519,2	MCF-7	breast:
6	chr5:114505745..114508021-chr5:114511446..114514175,2	K562	blood:

Variant related genes	Relation type
TRIM36	TF binding region
ENSG00000152503	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59813245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60895403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780056	1.00[EUR][1000 genomes]
rs73780078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780080	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv462399	chr5:114445023-114526010	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv599477	chr5:114445023-114526010	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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 target site	16 gene(s)	inside rSNPs	diseases
5	esv3336600	chr5:114504203-114506901	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114504200-114506800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:114504200-114507000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:114504200-114507400	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr5:114504600-114506800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114504600-114506800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:114504600-114506800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:114504600-114506800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:114504600-114507000	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:114504600-114507600	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:114504800-114506800	Active TSS	Pancreas	Pancrea
11	chr5:114504800-114507000	Bivalent/Poised TSS	Small Intestine	intestine
12	chr5:114504800-114507200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:114505000-114506800	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr5:114505200-114507000	Active TSS	Brain Substantia Nigra	brain
15	chr5:114505400-114507200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:114505400-114507200	Active TSS	Colonic Mucosa	Colon
17	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
22	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr5:114506000-114506800	Bivalent/Poised TSS	Stomach Mucosa	stomach
30	chr5:114506000-114506800	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr5:114506000-114507000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr5:114506000-114507000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:114506200-114506800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
37	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr5:114506200-114506800	Flanking Active TSS	Right Ventricle	heart
41	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	NH-A	brain
43	chr5:114506200-114506800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
44	chr5:114506200-114507000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:114506200-114507000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:114506200-114507000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr5:114506200-114507000	Flanking Bivalent TSS/Enh	Thymus	Thymus
48	chr5:114506200-114507000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr5:114506200-114507200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr5:114506200-114507200	Flanking Active TSS	Fetal Brain Female	brain

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