Variant report

Variant	rs74011386
Chromosome Location	chr15:45478356-45478357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:45476431-45481208	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
2	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
3	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
4	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
5	chr15:45461602..45463661-chr15:45476012..45479858,4	K562	blood:
6	chr15:45477456..45480320-chr15:45491100..45493481,2	MCF-7	breast:
7	chr15:45474753..45476915-chr15:45477928..45479578,2	MCF-7	breast:
8	chr15:45471595..45473672-chr15:45478332..45480462,2	MCF-7	breast:
9	chr15:45464668..45467281-chr15:45477714..45479302,2	K562	blood:

No data

Variant related genes	Relation type
SHF	TF binding region
ENSG00000138606	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000260035	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74009603	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45460000-45478600	Weak transcription	Thymus	Thymus
2	chr15:45466000-45478800	Weak transcription	Right Ventricle	heart
3	chr15:45473200-45480400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:45473600-45478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:45473800-45478800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr15:45474000-45478600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr15:45475400-45478600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:45475600-45478400	Genic enhancers	Fetal Stomach	stomach
9	chr15:45475600-45478600	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:45475600-45478800	Weak transcription	Stomach Mucosa	stomach
11	chr15:45475800-45479400	Flanking Active TSS	Fetal Brain Female	brain
12	chr15:45476000-45478400	Enhancers	Fetal Muscle Leg	muscle
13	chr15:45476000-45478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:45476000-45478800	Weak transcription	Left Ventricle	heart
15	chr15:45476000-45480200	Weak transcription	K562	blood
16	chr15:45476200-45478400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:45476200-45479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:45476600-45478400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:45476600-45478600	Enhancers	Ovary	ovary
20	chr15:45476600-45479200	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr15:45476800-45478400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:45476800-45478600	Enhancers	Colonic Mucosa	Colon
23	chr15:45476800-45479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:45476800-45479400	Flanking Active TSS	HepG2	liver
25	chr15:45477000-45478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:45477200-45478600	Enhancers	Brain Hippocampus Middle	brain
27	chr15:45477200-45478600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:45477200-45478800	Weak transcription	HMEC	breast
29	chr15:45477200-45479600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:45477200-45480400	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr15:45477400-45478400	Flanking Active TSS	Fetal Brain Male	brain
32	chr15:45477400-45478600	Enhancers	Brain Angular Gyrus	brain
33	chr15:45477400-45478600	Enhancers	Brain Cingulate Gyrus	brain
34	chr15:45477400-45478800	Enhancers	Spleen	Spleen
35	chr15:45477400-45479000	Enhancers	Dnd41	blood
36	chr15:45477400-45479200	Enhancers	Brain Substantia Nigra	brain
37	chr15:45477400-45479400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr15:45477400-45479800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:45477600-45478400	Enhancers	Esophagus	oesophagus
40	chr15:45477600-45478800	Weak transcription	Gastric	stomach
41	chr15:45477600-45478800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:45477600-45479200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:45477800-45478400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:45477800-45478600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:45477800-45478600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr15:45477800-45478800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:45477800-45479400	Flanking Active TSS	HSMM	muscle
48	chr15:45477800-45479600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:45477800-45479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:45478000-45478400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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