Variant report

Variant	rs72955246
Chromosome Location	chr18:9758126-9758127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
2	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
3	chr18:9716294..9718965-chr18:9756852..9758579,2	K562	blood:
4	chr18:9756107..9758502-chr18:9867013..9869362,2	MCF-7	breast:
5	chr18:9570194..9572131-chr18:9757327..9760241,2	K562	blood:
6	chr18:9736800..9737476-chr18:9757480..9758357,2	MCF-7	breast:
7	chr18:9755917..9758371-chr18:9847195..9849812,2	MCF-7	breast:
8	chr18:9705320..9708507-chr18:9758087..9760698,4	MCF-7	breast:
9	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
10	chr18:9756292..9758838-chr18:9926698..9928594,2	K562	blood:
11	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
12	chr18:9757339..9758292-chr18:9785141..9785899,2	MCF-7	breast:
13	chr18:9756873..9759429-chr20:47179184..47181913,2	MCF-7	breast:
14	chr18:9758037..9759602-chr18:9761966..9764311,2	K562	blood:
15	chr18:9757713..9760072-chr18:9943460..9946008,2	K562	blood:
16	chr18:9757328..9758357-chr18:9804207..9804764,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17510362	0.92[ASN][1000 genomes]
rs72955242	0.82[AMR][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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9748200-9759600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:9750200-9771400	Weak transcription	Brain Angular Gyrus	brain
3	chr18:9750800-9758200	Weak transcription	NHLF	lung
4	chr18:9750800-9764000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:9751000-9760600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr18:9751000-9762200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr18:9751800-9758200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:9752200-9766000	Weak transcription	Ovary	ovary
9	chr18:9754200-9758200	Weak transcription	NHEK	skin
10	chr18:9754200-9761200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr18:9754200-9763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:9754800-9759400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr18:9755000-9758400	Weak transcription	Small Intestine	intestine
14	chr18:9755000-9758600	Weak transcription	A549	lung
15	chr18:9755200-9759000	Enhancers	NH-A	brain
16	chr18:9755200-9759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:9755400-9758800	Enhancers	Primary hematopoietic stem cells	blood
18	chr18:9755400-9758800	Enhancers	Fetal Stomach	stomach
19	chr18:9755400-9759000	Enhancers	HSMM	muscle
20	chr18:9755600-9759400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9755600-9760600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr18:9755800-9758200	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:9755800-9770600	Weak transcription	Aorta	Aorta
24	chr18:9756000-9758200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr18:9756000-9760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9756000-9760600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr18:9756000-9764000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:9756200-9771200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:9756600-9758200	Weak transcription	HUVEC	blood vessel
30	chr18:9756800-9759000	Enhancers	Brain Hippocampus Middle	brain
31	chr18:9756800-9759400	Enhancers	Placenta	Placenta
32	chr18:9756800-9761200	Weak transcription	Adipose Nuclei	Adipose
33	chr18:9757000-9758200	Weak transcription	Fetal Thymus	thymus
34	chr18:9757000-9758200	Enhancers	HSMMtube	muscle
35	chr18:9757000-9758800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:9757000-9759000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:9757200-9758400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:9757200-9759000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:9757200-9759200	Enhancers	Fetal Muscle Trunk	muscle
40	chr18:9757400-9758600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr18:9757400-9758800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:9757600-9758200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:9757600-9758200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:9757600-9758400	Genic enhancers	Spleen	Spleen
45	chr18:9757600-9758600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr18:9757600-9758800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:9757600-9759000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:9757600-9759000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:9757600-9759000	Enhancers	Pancreas	Pancrea
50	chr18:9757600-9759000	Enhancers	NHDF-Ad	bronchial

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