Variant report

Variant	rs12756318
Chromosome Location	chr1:242611066-242611067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv549463	chr1:242265419-242856854	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv430391	chr1:242307104-243280885	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv817488	chr1:242330066-243121127	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv868888	chr1:242330066-243191101	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1003844	chr1:242363698-242904755	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv549464	chr1:242411114-242842300	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv549465	chr1:242465655-242989157	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1014487	chr1:242532959-243011891	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv535367	chr1:242532959-243011891	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv873377	chr1:242607583-243114662	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv945414	chr1:242610697-242858815	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242597600-242612400	Weak transcription	Aorta	Aorta
2	chr1:242597800-242619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242599600-242612600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:242609800-242613200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:242609800-242613200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:242609800-242613400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:242609800-242613600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:242610000-242611400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:242610000-242613400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:242610200-242613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:242610400-242611400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:242610600-242611200	Enhancers	NHEK	skin
13	chr1:242610600-242611400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:242610600-242612000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:242610600-242612200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:242610800-242611200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:242610800-242611400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:242610800-242611800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:242610800-242612200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:242610800-242613000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:242611000-242611200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:242611000-242611400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:242611000-242611600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:242611000-242612000	Active TSS	Brain Germinal Matrix	brain
25	chr1:242611000-242613000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:242611000-242613600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:242611000-242632200	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links