Variant report

Variant	rs149972935
Chromosome Location	chr5:43516255-43516256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:43515831-43516267	GM12878	blood:	n/a	chr5:43516012-43516024
2	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
3	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:43514632-43516366	GM12878	blood:	n/a	n/a
5	YY1	chr5:43515854-43516280	GM12891	blood:	n/a	chr5:43516012-43516024
6	POLR2A	chr5:43514613-43516436	GM12891	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
4	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
5	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
6	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
7	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
8	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
9	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
10	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
11	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
12	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
13	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
14	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000112972	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000112992	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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
2	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:43514400-43516400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:43515400-43516400	Flanking Active TSS	Hela-S3	cervix
5	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
7	chr5:43515600-43516400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:43515600-43516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:43515600-43516400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:43515600-43516400	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr5:43515600-43516400	Flanking Active TSS	Dnd41	blood
12	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:43515600-43523800	Weak transcription	Gastric	stomach
15	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
16	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
17	chr5:43515800-43516400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:43515800-43516400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:43515800-43516400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:43515800-43516400	Flanking Active TSS	K562	blood
21	chr5:43515800-43523400	Weak transcription	Lung	lung
22	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:43515800-43523800	Weak transcription	Ovary	ovary
24	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:43516000-43516400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:43516000-43516400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:43516000-43516400	Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr5:43516000-43516400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:43516000-43516400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:43516000-43516400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:43516000-43516400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:43516000-43516400	Enhancers	Fetal Intestine Large	intestine
34	chr5:43516000-43516400	Enhancers	Fetal Thymus	thymus
35	chr5:43516000-43516400	Enhancers	Thymus	Thymus
36	chr5:43516000-43516400	Enhancers	NHEK	skin
37	chr5:43516000-43516400	Enhancers	NHLF	lung
38	chr5:43516000-43519200	Weak transcription	Fetal Intestine Small	intestine
39	chr5:43516000-43523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:43516000-43523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:43516000-43523200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:43516000-43523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:43516000-43523400	Weak transcription	Primary T cells from cord blood	blood
44	chr5:43516000-43523400	Weak transcription	Fetal Brain Female	brain
45	chr5:43516000-43523400	Weak transcription	Left Ventricle	heart
46	chr5:43516000-43523400	Weak transcription	Psoas Muscle	Psoas
47	chr5:43516000-43523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:43516000-43523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:43516000-43523800	Weak transcription	Brain Germinal Matrix	brain
50	chr5:43516000-43523800	Weak transcription	Right Ventricle	heart

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