Variant report

Variant	rs73932783
Chromosome Location	chr2:54727158-54727159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
2	chr2:54340022..54344058-chr2:54726690..54729314,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57368496	1.00[AMR][1000 genomes]
rs73932784	0.85[AFR][1000 genomes]
rs73934321	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934453	1.00[AMR][1000 genomes]
rs73934497	1.00[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	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:54716000-54730000	Weak transcription	NH-A	brain
8	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
9	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
10	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
11	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
13	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:54719800-54728200	Weak transcription	Gastric	stomach
15	chr2:54722600-54728200	Weak transcription	Spleen	Spleen
16	chr2:54723800-54727200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:54723800-54727200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
19	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
20	chr2:54724000-54728600	Enhancers	HepG2	liver
21	chr2:54724000-54731400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:54724200-54729600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:54724400-54732800	Enhancers	Brain Hippocampus Middle	brain
26	chr2:54724600-54732800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:54724800-54728600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:54724800-54731400	Enhancers	Brain Substantia Nigra	brain
29	chr2:54724800-54732200	Enhancers	Ovary	ovary
30	chr2:54725000-54727800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:54725000-54733000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:54725200-54727200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:54725200-54732200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:54725200-54737600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:54725400-54727200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:54725400-54728200	Enhancers	HSMMtube	muscle
37	chr2:54725400-54729600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:54725400-54729800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:54725400-54730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:54725600-54727200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:54725600-54730000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:54725600-54730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:54725600-54732600	Weak transcription	Small Intestine	intestine
44	chr2:54725800-54730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:54725800-54731400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:54725800-54732800	Enhancers	NHDF-Ad	bronchial
47	chr2:54726000-54728600	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:54726000-54728800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:54726000-54733000	Enhancers	Brain Angular Gyrus	brain
50	chr2:54726200-54727400	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links