Variant report

Variant	rs565237945
Chromosome Location	chr15:41784839-41784840
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	USF1	chr15:41784778-41785130	K562	blood:	n/a	n/a
2	ESRRA	chr15:41784803-41786660	GM12878	blood:	n/a	chr15:41785466-41785479 chr15:41785470-41785483 chr15:41785471-41785483
3	JUN	chr15:41784825-41786595	K562	blood:	n/a	chr15:41785857-41785871
4	POLR2A	chr15:41784779-41784962	K562	blood:	n/a	n/a
5	POLR2A	chr15:41784821-41786193	U87	brain:	n/a	n/a
6	POLR2A	chr15:41784726-41786199	U87	brain:	n/a	n/a
7	USF1	chr15:41784797-41785251	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr15:41784745-41787140	IMR90	lung:	n/a	chr15:41787004-41787014 chr15:41787041-41787050 chr15:41785812-41785822
9	POLR2A	chr15:41784324-41784923	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41783642..41785495-chr15:41786905..41788686,2	K562	blood:
2	chr15:41784287..41786620-chr15:41827580..41829440,3	K562	blood:
3	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
4	chr15:41784591..41787497-chr15:41813598..41816388,3	K562	blood:
5	chr15:41784244..41787186-chr15:41835793..41838130,2	MCF-7	breast:
6	chr15:41783980..41786928-chr15:41835398..41839034,5	K562	blood:
7	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:

Variant related genes	Relation type
ITPKA	TF binding region
ENSG00000259838	Chromatin interaction
ENSG00000092445	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000103932	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41773400-41785000	Weak transcription	A549	lung
2	chr15:41779800-41785200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:41781800-41785000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:41781800-41785000	Enhancers	NHDF-Ad	bronchial
5	chr15:41781800-41785200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:41782200-41785000	Enhancers	HUVEC	blood vessel
7	chr15:41782200-41785200	Enhancers	NH-A	brain
8	chr15:41782400-41785000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:41783400-41785000	Enhancers	Spleen	Spleen
10	chr15:41783400-41785400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:41783600-41785000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:41783600-41785000	Enhancers	Stomach Mucosa	stomach
13	chr15:41783800-41785200	Enhancers	Pancreas	Pancrea
14	chr15:41784000-41785000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:41784200-41785000	Bivalent Enhancer	Fetal Heart	heart
16	chr15:41784200-41785200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr15:41784400-41785000	Bivalent Enhancer	Fetal Lung	lung
18	chr15:41784400-41785200	Enhancers	Gastric	stomach
19	chr15:41784600-41785000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr15:41784600-41785000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr15:41784600-41785000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:41784600-41785000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:41784600-41785000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr15:41784600-41785000	Enhancers	Brain Anterior Caudate	brain
25	chr15:41784600-41785000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr15:41784600-41785000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr15:41784600-41785000	Bivalent Enhancer	Brain Substantia Nigra	brain
28	chr15:41784600-41785000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr15:41784600-41785000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr15:41784600-41785000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr15:41784600-41785000	Bivalent Enhancer	Placenta	Placenta
32	chr15:41784600-41785000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr15:41784600-41785000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
34	chr15:41784600-41785000	Enhancers	Right Atrium	heart
35	chr15:41784600-41785000	Enhancers	HSMM	muscle
36	chr15:41784600-41785200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:41784600-41785200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:41784600-41785200	Enhancers	Left Ventricle	heart
39	chr15:41784600-41785200	Flanking Active TSS	HepG2	liver
40	chr15:41784600-41785400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:41784600-41785400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:41784600-41785400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr15:41784600-41786000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:41784800-41785000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr15:41784800-41785000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:41784800-41785000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:41784800-41785000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr15:41784800-41785000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr15:41784800-41785000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr15:41784800-41785000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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