Variant report

Variant	rs481797
Chromosome Location	chr13:52369893-52369894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52368810..52370322-chr13:52370429..52372255,2	MCF-7	breast:
2	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
3	chr13:52361705..52366550-chr13:52366781..52371643,5	MCF-7	breast:
4	chr13:52025654..52028451-chr13:52369757..52372475,3	K562	blood:
5	chr13:52004260..52005821-chr13:52369887..52371533,2	K562	blood:

Variant related genes	Relation type
ENSG00000102796	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1535577	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1924613	1.00[EUR][1000 genomes]
rs502641	1.00[EUR][1000 genomes]
rs57259213	1.00[EUR][1000 genomes]
rs575555	1.00[CEU][hapmap]
rs577331	1.00[CEU][hapmap]
rs578134	1.00[CEU][hapmap]
rs57976507	1.00[EUR][1000 genomes]
rs579839	1.00[CEU][hapmap]
rs59282183	1.00[EUR][1000 genomes]
rs7324468	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73496048	1.00[EUR][1000 genomes]
rs73496052	1.00[EUR][1000 genomes]
rs7987833	1.00[EUR][1000 genomes]
rs7989238	1.00[EUR][1000 genomes]
rs7993040	1.00[EUR][1000 genomes]
rs7993578	1.00[EUR][1000 genomes]
rs9596597	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9596601	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv1840020	chr13:52345838-52388765	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:52346400-52376000	Weak transcription	Thymus	Thymus
6	chr13:52348200-52375600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr13:52348200-52375600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:52355000-52370600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:52356000-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:52356000-52371400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:52357200-52371200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:52358000-52372000	Weak transcription	HepG2	liver
13	chr13:52358600-52375600	Weak transcription	Colonic Mucosa	Colon
14	chr13:52359000-52375600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr13:52360400-52373600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:52360600-52376000	Weak transcription	Gastric	stomach
17	chr13:52360800-52370600	Weak transcription	Aorta	Aorta
18	chr13:52360800-52371000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:52360800-52375600	Weak transcription	Fetal Intestine Large	intestine
20	chr13:52361000-52374800	Weak transcription	Stomach Mucosa	stomach
21	chr13:52361000-52375600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:52361400-52373200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:52361600-52370000	Weak transcription	Fetal Heart	heart
24	chr13:52361600-52370000	Weak transcription	Placenta	Placenta
25	chr13:52361600-52370200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:52361600-52370400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr13:52361600-52371600	Weak transcription	Brain Angular Gyrus	brain
28	chr13:52361600-52372200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:52361600-52374400	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:52361600-52374400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:52361600-52374600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr13:52361600-52374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:52361600-52375000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr13:52361600-52375800	Weak transcription	Brain Germinal Matrix	brain
35	chr13:52361600-52376400	Weak transcription	Fetal Brain Female	brain
36	chr13:52361800-52370400	Weak transcription	Right Ventricle	heart
37	chr13:52361800-52374400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:52361800-52374600	Weak transcription	Psoas Muscle	Psoas
39	chr13:52361800-52376200	Weak transcription	Fetal Brain Male	brain
40	chr13:52363200-52374600	Weak transcription	Left Ventricle	heart
41	chr13:52363400-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:52363800-52370600	Weak transcription	Ovary	ovary
43	chr13:52363800-52371000	Weak transcription	Liver	Liver
44	chr13:52364000-52370400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:52364000-52374600	Weak transcription	Brain Hippocampus Middle	brain
46	chr13:52364000-52374800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr13:52364200-52375800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr13:52365000-52371600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr13:52366000-52375800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr13:52366200-52371600	Weak transcription	H9 Cell Line	embryonic stem cell

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