Variant report

Variant	rs561279505
Chromosome Location	chr1:227828868-227828869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227824309..227826366-chr1:227826711..227829251,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945342	chr1:227819395-227829907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3334041	chr1:227828477-227828925	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
4	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
8	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr1:227825200-227830400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr1:227826000-227829000	ZNF genes & repeats	Pancreas	Pancrea
13	chr1:227826600-227829000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:227827400-227829000	ZNF genes & repeats	Fetal Lung	lung
15	chr1:227827400-227830000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:227827400-227830800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:227827600-227829000	ZNF genes & repeats	Lung	lung
18	chr1:227827600-227829200	ZNF genes & repeats	Dnd41	blood
19	chr1:227827600-227830400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr1:227827800-227829800	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr1:227827800-227830600	Weak transcription	Fetal Heart	heart
22	chr1:227827800-227830800	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr1:227827800-227845400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr1:227828000-227830200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:227828000-227830600	ZNF genes & repeats	Ovary	ovary
26	chr1:227828200-227829000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:227828200-227829200	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:227828200-227830400	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr1:227828200-227830800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr1:227828200-227831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:227828400-227829000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr1:227828400-227830200	ZNF genes & repeats	Left Ventricle	heart
33	chr1:227828400-227837400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr1:227828600-227829000	ZNF genes & repeats	Gastric	stomach
35	chr1:227828600-227829000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr1:227828600-227829400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:227828600-227830200	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr1:227828800-227829000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:227828800-227829000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:227828800-227831000	ZNF genes & repeats	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links