Variant report

Variant	rs565375148
Chromosome Location	chr3:112929420-112929421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:112929378-112929516	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr3:112929268-112929689	H1-hESC	embryonic stem cell:	n/a	n/a
3	RFX5	chr3:112929246-112929588	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr3:112929324-112929566	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr3:112929109-112930171	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr3:112929356-112929657	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr3:112929136-112929675	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr3:112929310-112929641	H1-hESC	embryonic stem cell:	n/a	n/a
9	GTF2F1	chr3:112929305-112929478	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr3:112929169-112931694	H1-hESC	embryonic stem cell:	n/a	chr3:112929815-112929828 chr3:112930962-112930971
11	SP1	chr3:112929142-112929689	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr3:112929338-112929837	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112929165..112932026-chr3:112933299..112935458,2	K562	blood:
2	chr3:112875811..112877981-chr3:112929321..112930900,2	MCF-7	breast:

No data

Variant related genes	Relation type
BOC	TF binding region
ENSG00000144857	Chromatin interaction
ENSG00000240057	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877346	chr3:112893640-112938683	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv877347	chr3:112895679-112934752	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	esv3394751	chr3:112928562-112932960	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112929000-112929600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:112929000-112929600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr3:112929000-112929800	Enhancers	Pancreas	Pancrea
4	chr3:112929000-112930000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr3:112929200-112929600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:112929200-112929600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:112929200-112929600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:112929200-112929600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:112929200-112929600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:112929200-112929600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:112929200-112929600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:112929200-112929600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:112929200-112929600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:112929200-112929600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:112929200-112929600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:112929200-112929600	Flanking Active TSS	Fetal Brain Female	brain
17	chr3:112929200-112929600	Flanking Active TSS	Fetal Stomach	stomach
18	chr3:112929200-112929600	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr3:112929200-112929600	Flanking Active TSS	Osteobl	bone
20	chr3:112929200-112929800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:112929200-112929800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:112929200-112929800	Active TSS	Adipose Nuclei	Adipose
23	chr3:112929200-112929800	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr3:112929200-112930000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:112929200-112930000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr3:112929200-112930000	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr3:112929200-112930200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:112929200-112930200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:112929200-112930200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
30	chr3:112929200-112930400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr3:112929200-112931200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr3:112929200-112931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:112929200-112931400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr3:112929200-112931400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr3:112929200-112932000	Active TSS	Fetal Kidney	kidney
36	chr3:112929200-112932400	Active TSS	Brain Anterior Caudate	brain
37	chr3:112929400-112929600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:112929400-112929600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:112929400-112929600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:112929400-112929600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr3:112929400-112929600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
42	chr3:112929400-112929600	Bivalent Enhancer	Fetal Heart	heart
43	chr3:112929400-112929600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr3:112929400-112929600	Flanking Active TSS	Fetal Lung	lung
45	chr3:112929400-112929600	Enhancers	Placenta	Placenta
46	chr3:112929400-112929600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr3:112929400-112929800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:112929400-112929800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:112929400-112929800	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:112929400-112929800	Flanking Active TSS	Esophagus	oesophagus

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