Variant report

Variant	rs56326388
Chromosome Location	chr2:192033781-192033782
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:192028821..192041382-chr2:192107727..192116436,32	MCF-7	breast:
2	chr2:192028853..192037480-chr2:192106689..192114031,33	MCF-7	breast:
3	chr2:192029597..192037041-chr2:192078760..192087012,37	MCF-7	breast:
4	chr2:192033416..192035399-chr2:192093631..192095265,2	MCF-7	breast:
5	chr2:192033458..192035763-chr2:192040616..192043907,4	MCF-7	breast:
6	chr2:192032258..192033875-chr2:192247637..192249560,2	MCF-7	breast:
7	chr2:192032633..192035220-chr2:192167256..192169956,2	MCF-7	breast:
8	chr2:192033116..192035767-chr2:192066111..192068608,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128641	Chromatin interaction
ENSG00000227542	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3024845	1.00[AMR][1000 genomes]
rs61705630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980039	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004656	chr2:191980778-192221650	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536090	chr2:191980778-192221650	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv875623	chr2:192002538-192061869	Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:192029600-192034400	Enhancers	NHEK	skin
2	chr2:192029800-192038000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:192029800-192039600	Enhancers	HMEC	breast
4	chr2:192029800-192039600	Enhancers	NHDF-Ad	bronchial
5	chr2:192029800-192039600	Enhancers	Osteobl	bone
6	chr2:192029800-192041400	Enhancers	Liver	Liver
7	chr2:192030000-192036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:192030000-192036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:192030000-192038800	Enhancers	NHLF	lung
10	chr2:192030200-192033800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:192030200-192036000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:192030200-192036600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:192030400-192035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:192030400-192035400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:192030400-192035400	Weak transcription	Dnd41	blood
16	chr2:192030400-192035600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:192030400-192035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:192030400-192039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:192030600-192036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:192030600-192036200	Weak transcription	Small Intestine	intestine
21	chr2:192030600-192037800	Weak transcription	Thymus	Thymus
22	chr2:192031200-192036000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:192031200-192036000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:192031400-192033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:192031600-192034400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:192031600-192036000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:192031600-192036000	Weak transcription	Right Atrium	heart
28	chr2:192031600-192041600	Weak transcription	Fetal Intestine Small	intestine
29	chr2:192031600-192041800	Weak transcription	Aorta	Aorta
30	chr2:192031800-192035000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:192031800-192035800	Weak transcription	HUVEC	blood vessel
32	chr2:192031800-192036000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:192031800-192036000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:192031800-192036000	Weak transcription	Fetal Stomach	stomach
35	chr2:192031800-192036200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:192031800-192036400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:192031800-192037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:192032000-192036400	Weak transcription	Fetal Heart	heart
39	chr2:192032200-192037800	Weak transcription	Left Ventricle	heart
40	chr2:192032600-192034800	Weak transcription	HSMMtube	muscle
41	chr2:192032600-192049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:192032800-192035800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:192032800-192037800	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:192033000-192033800	Weak transcription	Fetal Kidney	kidney
45	chr2:192033000-192033800	Enhancers	A549	lung
46	chr2:192033000-192034000	Weak transcription	Fetal Lung	lung
47	chr2:192033000-192034000	Weak transcription	Hela-S3	cervix
48	chr2:192033000-192034200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:192033000-192034200	Weak transcription	NH-A	brain
50	chr2:192033000-192034800	Weak transcription	HSMM	muscle

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