Variant report

Variant	rs376509816
Chromosome Location	chr1:154475572-154475573
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	E2F6	chr1:154474013-154475849	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048
2	MAX	chr1:154474862-154475636	HUVEC	blood vessel:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
3	MAX	chr1:154474033-154475830	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
4	CTCF	chr1:154475567-154475657	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:154474027-154475856	H1-hESC	embryonic stem cell:	n/a	chr1:154474736-154474746 chr1:154475552-154475562 chr1:154474854-154474864 chr1:154475484-154475493 chr1:154474576-154474585 chr1:154475160-154475179 chr1:154475164-154475175
6	TEAD4	chr1:154475039-154475651	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:154474923-154475703	H1-hESC	embryonic stem cell:	n/a	chr1:154475552-154475562 chr1:154475484-154475493 chr1:154475160-154475179 chr1:154475164-154475175
8	YY1	chr1:154475283-154475630	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:154473973-154475840	H1-hESC	embryonic stem cell:	n/a	chr1:154475683-154475692 chr1:154474738-154474747 chr1:154475247-154475254 chr1:154474983-154474992 chr1:154475362-154475374 chr1:154475038-154475048

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:

Variant related genes	Relation type
SHE	TF binding region
ENSG00000160714	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	esv3424713	chr1:154473153-154475701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3414034	chr1:154473478-154476776	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv1822921	chr1:154474131-154495697	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv547950	chr1:154474233-154480318	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv547953	chr1:154474284-154480485	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3375928	chr1:154474353-154476901	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
2	chr1:154473200-154475600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:154474000-154475600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:154474200-154475600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:154474400-154475600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr1:154474400-154475600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr1:154474800-154475600	Enhancers	Pancreas	Pancrea
8	chr1:154475000-154475600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:154475000-154475600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr1:154475000-154475600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr1:154475000-154475600	Flanking Active TSS	Right Ventricle	heart
12	chr1:154475000-154475800	ZNF genes & repeats	Spleen	Spleen
13	chr1:154475200-154475600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:154475200-154475600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr1:154475200-154475600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr1:154475200-154475800	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:154475400-154475600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr1:154475400-154475600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:154475400-154475600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:154475400-154475600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:154475400-154475600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:154475400-154475600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:154475400-154475600	Enhancers	Adipose Nuclei	Adipose
24	chr1:154475400-154475600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr1:154475400-154475600	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr1:154475400-154475600	Bivalent Enhancer	Left Ventricle	heart
27	chr1:154475400-154475600	Enhancers	Lung	lung
28	chr1:154475400-154475600	ZNF genes & repeats	Ovary	ovary
29	chr1:154475400-154475600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
30	chr1:154475400-154475600	Flanking Active TSS	Right Atrium	heart
31	chr1:154475400-154475600	Bivalent Enhancer	Thymus	Thymus
32	chr1:154475400-154475600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr1:154475400-154475800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr1:154475400-154475800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:154475400-154475800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:154475400-154475800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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