Variant report

Variant	rs376445810
Chromosome Location	chr1:95126882-95126883
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	JUND	chr1:95126541-95126955	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:95126506-95126959	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr1:95126716-95126906	Hela-S3	cervix:	n/a	n/a
4	MAX	chr1:95126497-95126978	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr1:95126476-95127002	H1-hESC	embryonic stem cell:	n/a	chr1:95126641-95126650 chr1:95126755-95126766
6	SP1	chr1:95126459-95126935	H1-hESC	embryonic stem cell:	n/a	chr1:95126641-95126650 chr1:95126755-95126766
7	ATF2	chr1:95126491-95127014	H1-hESC	embryonic stem cell:	n/a	n/a
8	POU5F1	chr1:95126471-95126925	H1-hESC	embryonic stem cell:	n/a	chr1:95126766-95126774
9	TEAD4	chr1:95126456-95126945	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr1:95126542-95126924	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr1:95126707-95126950	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr1:95126533-95126948	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr1:95126522-95126957	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr1:95126490-95126922	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr1:95126571-95127497	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
LINC01057	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	esv2755232	chr1:95119790-95151813	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432509	chr1:95119790-95151813	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756851	chr1:95119790-95158603	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758950	chr1:95119790-95158603	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv462528	chr1:95122518-95142843	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv546852	chr1:95122518-95142843	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv437227	chr1:95122565-95143548	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1001602	chr1:95125965-95153262	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1002928	chr1:95126536-95152838	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998738	chr1:95126536-95155399	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95124200-95127000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:95124200-95131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:95125000-95133200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:95125400-95128400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:95125600-95128400	Enhancers	Hela-S3	cervix
6	chr1:95125800-95128800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:95125800-95128800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:95126000-95127400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:95126000-95127400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:95126000-95127400	Enhancers	Fetal Heart	heart
11	chr1:95126000-95127600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:95126000-95128400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:95126000-95128600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:95126000-95128800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:95126000-95128800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:95126200-95127000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:95126200-95127000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:95126200-95127000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:95126200-95127000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:95126200-95127200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:95126200-95127800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:95126400-95127000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:95126400-95127000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:95126400-95127000	Enhancers	NHEK	skin
25	chr1:95126400-95127200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:95126400-95127400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:95126400-95127400	Enhancers	NHDF-Ad	bronchial
28	chr1:95126400-95127600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:95126400-95127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:95126400-95127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:95126400-95127600	Enhancers	Fetal Intestine Small	intestine
32	chr1:95126400-95127800	Enhancers	Fetal Intestine Large	intestine
33	chr1:95126400-95128400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:95126600-95127200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:95126600-95127200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:95126600-95127400	Enhancers	Stomach Mucosa	stomach
37	chr1:95126800-95127000	Enhancers	HepG2	liver
38	chr1:95126800-95127200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:95126800-95128000	Weak transcription	Left Ventricle	heart
40	chr1:95126800-95133000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:95126800-95137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:95126800-95141600	Weak transcription	Pancreas	Pancrea
43	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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