Variant report

Variant	rs60897215
Chromosome Location	chr13:50703923-50703924
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	E2F6	chr13:50703389-50705088	H1-hESC	embryonic stem cell:	n/a	chr13:50704371-50704383
2	SUZ12	chr13:50703396-50705109	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr13:50703428-50705400	H1-hESC	embryonic stem cell:	n/a	n/a
4	MTA3	chr13:50702658-50704187	GM12878	blood:	n/a	n/a
5	BACH1	chr13:50703802-50704276	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr13:50703895-50704160	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr13:50703630-50704055	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr13:50703638-50704966	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
9	MAX	chr13:50703654-50704892	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
10	MAX	chr13:50703788-50704263	H1-hESC	embryonic stem cell:	n/a	chr13:50704050-50704060
11	USF1	chr13:50703688-50704032	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr13:50703702-50704972	H1-hESC	embryonic stem cell:	n/a	chr13:50704371-50704383
13	STAT5A	chr13:50703739-50704182	GM12878	blood:	n/a	chr13:50704046-50704058 chr13:50703903-50703915
14	CTCF	chr13:50703800-50703950	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr13:50697768-50704046	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50702418..50705052-chr13:50749467..50751961,2	K562	blood:
2	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
3	chr13:50702118..50703932-chr13:50761814..50763532,2	K562	blood:
4	chr13:50701973..50704283-chr13:50721601..50723228,2	MCF-7	breast:
5	chr13:50703614..50705801-chr13:50707682..50709905,3	MCF-7	breast:
6	chr13:50654107..50658671-chr13:50702301..50706921,6	MCF-7	breast:
7	chr13:50703622..50705304-chr13:50709940..50712751,2	K562	blood:

Variant related genes	Relation type
DLEU2	TF binding region
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2066588	0.85[AFR][1000 genomes]
rs55937551	0.85[AFR][1000 genomes]
rs73491537	0.82[AFR][1000 genomes]
rs73494027	0.85[AFR][1000 genomes]
rs73494029	0.85[AFR][1000 genomes]
rs73494031	0.85[AFR][1000 genomes]
rs74076878	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50701200-50704200	Weak transcription	A549	lung
2	chr13:50701600-50705800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
3	chr13:50701800-50704000	Weak transcription	Gastric	stomach
4	chr13:50702200-50704000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr13:50702400-50704000	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr13:50702400-50704000	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr13:50702600-50704200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
8	chr13:50702600-50704400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
9	chr13:50702800-50704600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr13:50703000-50704200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr13:50703000-50705400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
13	chr13:50703200-50704000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:50703200-50704000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr13:50703200-50705600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr13:50703400-50704000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:50703400-50704000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr13:50703400-50704000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:50703400-50704000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:50703400-50704000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:50703400-50704000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr13:50703400-50704000	Flanking Active TSS	Osteobl	bone
23	chr13:50703400-50704200	Enhancers	Lung	lung
24	chr13:50703400-50704200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr13:50703400-50704200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr13:50703400-50705400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
27	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr13:50703400-50705600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
30	chr13:50703400-50706000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr13:50703600-50704000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr13:50703600-50704000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:50703600-50704000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
34	chr13:50703600-50704000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:50703600-50704000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:50703600-50704000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:50703600-50704000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr13:50703600-50704000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr13:50703600-50704000	Bivalent Enhancer	Small Intestine	intestine
40	chr13:50703600-50704000	Flanking Active TSS	NHLF	lung
41	chr13:50703600-50704200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
42	chr13:50703600-50704200	Flanking Active TSS	Right Atrium	heart
43	chr13:50703600-50704200	Flanking Active TSS	Right Ventricle	heart
44	chr13:50703600-50704200	Bivalent Enhancer	Spleen	Spleen
45	chr13:50703600-50704400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:50703600-50704400	Bivalent Enhancer	Liver	Liver
47	chr13:50703600-50704400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr13:50703600-50704400	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr13:50703600-50704400	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr13:50703600-50704600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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