Variant report

Variant	rs56039264
Chromosome Location	chr17:38488774-38488775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38447015..38448782-chr17:38486677..38489343,2	MCF-7	breast:
2	chr17:38469740..38472162-chr17:38487201..38489333,2	K562	blood:
3	chr17:38462397..38466467-chr17:38488057..38492015,4	K562	blood:

Variant related genes	Relation type
ENSG00000094804	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10451257	1.00[EUR][1000 genomes]
rs56041121	1.00[EUR][1000 genomes]
rs59702673	1.00[EUR][1000 genomes]
rs73983038	1.00[EUR][1000 genomes]
rs73983040	1.00[EUR][1000 genomes]
rs9903261	1.00[EUR][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	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1063310	chr17:38467043-38499351	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1057471	chr17:38467043-38502453	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38479200-38494400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38479400-38489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:38479400-38491600	Enhancers	Fetal Heart	heart
4	chr17:38479600-38490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:38479600-38491200	Weak transcription	Fetal Kidney	kidney
6	chr17:38483400-38490800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:38484000-38491600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:38485600-38497200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr17:38486200-38488800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38486200-38488800	Enhancers	Right Atrium	heart
11	chr17:38486200-38489000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:38486200-38489000	Genic enhancers	Fetal Intestine Small	intestine
13	chr17:38486200-38489200	Enhancers	Brain Substantia Nigra	brain
14	chr17:38486200-38489200	Enhancers	Psoas Muscle	Psoas
15	chr17:38486200-38489200	Enhancers	HUVEC	blood vessel
16	chr17:38486200-38489200	Enhancers	NHDF-Ad	bronchial
17	chr17:38486200-38489600	Enhancers	Brain Angular Gyrus	brain
18	chr17:38486200-38489600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr17:38486200-38490200	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr17:38486200-38491000	Genic enhancers	Spleen	Spleen
21	chr17:38486200-38492200	Genic enhancers	Fetal Stomach	stomach
22	chr17:38486200-38492400	Enhancers	Left Ventricle	heart
23	chr17:38486200-38492400	Enhancers	Ovary	ovary
24	chr17:38486200-38492600	Enhancers	Stomach Mucosa	stomach
25	chr17:38486400-38489000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:38486400-38489000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:38486400-38489000	Genic enhancers	Fetal Intestine Large	intestine
28	chr17:38486400-38489200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr17:38486400-38489200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr17:38486600-38489000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38486600-38489000	Enhancers	Fetal Brain Male	brain
32	chr17:38486600-38489200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr17:38486600-38491200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:38486600-38491200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:38486600-38491200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr17:38486800-38488800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
37	chr17:38486800-38489000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:38486800-38489400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr17:38486800-38489800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:38486800-38492200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:38487000-38489000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:38487000-38489200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr17:38487000-38489800	Genic enhancers	Primary T cells from cord blood	blood
44	chr17:38487000-38490200	Weak transcription	K562	blood
45	chr17:38487000-38490400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:38487000-38491000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:38487000-38494200	Weak transcription	Dnd41	blood
48	chr17:38487200-38489000	Genic enhancers	Lung	lung
49	chr17:38487200-38489000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr17:38487200-38489000	Transcr. at gene 5' and 3'	A549	lung

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