Variant report

Variant	rs397943735
Chromosome Location	chr2:38955546-38955547
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38824669..38828895-chr2:38950792..38955552,5	K562	blood:
2	chr2:38806248..38808565-chr2:38954475..38956582,2	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1797820	chr2:38941956-38972456	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv820974	chr2:38945458-38972971	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv1814150	chr2:38948483-38972456	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv1795154	chr2:38951608-38971432	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv1800732	chr2:38951608-38973837	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv1791751	chr2:38953669-38968842	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv2763640	chr2:38954419-38977371	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv1837294	chr2:38955129-38965076	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv581486	chr2:38955129-38971745	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv819664	chr2:38955537-38972936	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
6	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:38930600-38965000	Weak transcription	Gastric	stomach
8	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
12	chr2:38937200-38956600	Weak transcription	Fetal Brain Female	brain
13	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:38939000-38956600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:38939200-38958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:38943600-38956000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:38943600-38958600	Weak transcription	Aorta	Aorta
18	chr2:38946400-38957000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:38948000-38955800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:38948000-38958600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:38948200-38956600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:38948200-38956600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:38948200-38956600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:38948200-38957000	Weak transcription	Spleen	Spleen
25	chr2:38948200-38958600	Weak transcription	Esophagus	oesophagus
26	chr2:38948200-38968200	Weak transcription	Stomach Mucosa	stomach
27	chr2:38948400-38956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:38948400-38958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:38948400-38958800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:38948400-38964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:38948400-38964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:38948400-38970600	Weak transcription	NHEK	skin
33	chr2:38948600-38956600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:38948600-38956800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:38948600-38957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:38948600-38959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:38948600-38970200	Weak transcription	NHDF-Ad	bronchial
38	chr2:38948600-38971200	Weak transcription	Fetal Kidney	kidney
39	chr2:38948800-38956600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:38948800-38956600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:38948800-38956800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:38948800-38957000	Weak transcription	Lung	lung
43	chr2:38948800-38960200	Weak transcription	Hela-S3	cervix
44	chr2:38948800-38960600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:38948800-38964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:38949000-38956800	Weak transcription	Ovary	ovary
47	chr2:38949000-38958600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:38949000-38965000	Weak transcription	Right Ventricle	heart
49	chr2:38949600-38956800	Weak transcription	Osteobl	bone
50	chr2:38949800-38956600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links