Variant report

Variant	rs535023241
Chromosome Location	chr1:180645555-180645556
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv947336	chr1:180642298-180656857	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:180636400-180651800	Weak transcription	Ovary	ovary
5	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
6	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
7	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:180641200-180647400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:180641200-180653400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:180642200-180658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180642800-180646200	Weak transcription	Pancreas	Pancrea
14	chr1:180643000-180651400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:180643200-180647200	Weak transcription	Primary T cells from cord blood	blood
17	chr1:180644000-180645800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:180644000-180646200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:180644000-180660400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
22	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:180644200-180645800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:180644200-180645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:180644800-180645600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:180645000-180646400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:180645200-180646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:180645200-180647200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:180645200-180651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:180645200-180652600	Weak transcription	NHEK	skin
31	chr1:180645200-180659400	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links