Variant report

Variant	rs1045955
Chromosome Location	chr3:53529104-53529105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr3:53528950-53529884	H1-neurons	neurons:	n/a	chr3:53529507-53529520 chr3:53529362-53529375
2	MAX	chr3:53529065-53530177	H1-hESC	embryonic stem cell:	n/a	chr3:53529912-53529921 chr3:53529653-53529663 chr3:53529913-53529920
3	POLR2A	chr3:53529011-53530390	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
CACNA1D	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv3442278	chr3:53527437-53530285	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3444874	chr3:53527737-53529960	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53527000-53530600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:53527200-53529200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:53527200-53529200	Active TSS	Duodenum Mucosa	Duodenum
4	chr3:53527200-53529200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr3:53527400-53529200	Active TSS	Fetal Intestine Large	intestine
6	chr3:53527400-53530200	Active TSS	Brain Hippocampus Middle	brain
7	chr3:53527400-53530400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:53527400-53530400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr3:53527400-53531000	Active TSS	Brain Cingulate Gyrus	brain
10	chr3:53527600-53529200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:53527600-53529200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr3:53527600-53529200	Active TSS	Rectal Smooth Muscle	rectum
13	chr3:53527600-53529400	Active TSS	Fetal Brain Female	brain
14	chr3:53527600-53529800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr3:53527600-53530000	Active TSS	Brain Anterior Caudate	brain
16	chr3:53527600-53533000	Enhancers	Fetal Brain Male	brain
17	chr3:53527800-53529200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr3:53527800-53529200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr3:53527800-53529200	Active TSS	Pancreas	Pancrea
20	chr3:53527800-53529200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:53527800-53529200	Active TSS	Right Atrium	heart
22	chr3:53527800-53529200	Active TSS	A549	lung
23	chr3:53527800-53530000	Active TSS	Aorta	Aorta
24	chr3:53527800-53530000	Active TSS	Fetal Lung	lung
25	chr3:53527800-53530200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:53527800-53530200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr3:53527800-53530200	Active TSS	Colon Smooth Muscle	Colon
28	chr3:53527800-53530400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr3:53527800-53530400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr3:53527800-53530400	Active TSS	Fetal Kidney	kidney
31	chr3:53527800-53530600	Active TSS	Brain Angular Gyrus	brain
32	chr3:53527800-53530800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:53528000-53529200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:53528000-53529200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:53528000-53529200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr3:53528000-53529200	Active TSS	Fetal Intestine Small	intestine
37	chr3:53528000-53529200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr3:53528000-53529200	Bivalent/Poised TSS	HSMMtube	muscle
39	chr3:53528000-53529200	Bivalent/Poised TSS	NHEK	skin
40	chr3:53528000-53529400	Bivalent/Poised TSS	Thymus	Thymus
41	chr3:53528000-53529600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr3:53528000-53529800	Bivalent Enhancer	Primary B cells from cord blood	blood
43	chr3:53528000-53530000	Bivalent/Poised TSS	NHLF	lung
44	chr3:53528000-53530400	Active TSS	Brain Substantia Nigra	brain
45	chr3:53528200-53529200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:53528200-53529200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
47	chr3:53528200-53529200	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr3:53528200-53529600	Active TSS	Hela-S3	cervix
49	chr3:53528400-53529200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:53528400-53529200	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links