Variant report

Variant	rs561292964
Chromosome Location	chr1:160084225-160084226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160068235..160071185-chr1:160084103..160086176,2	K562	blood:
2	chr1:160083301..160085781-chr1:160135957..160137542,2	K562	blood:
3	chr1:160083469..160085740-chr1:160096653..160098636,2	K562	blood:
4	chr1:160083452..160085490-chr1:160312223..160314829,2	K562	blood:
5	chr1:160065564..160068271-chr1:160082257..160084240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122218	Chromatin interaction
ENSG00000162736	Chromatin interaction
ENSG00000132681	Chromatin interaction
ENSG00000162729	Chromatin interaction
ENSG00000018625	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160074800-160086400	Weak transcription	Spleen	Spleen
2	chr1:160078400-160085400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:160079600-160084400	Weak transcription	Fetal Lung	lung
4	chr1:160080800-160085400	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:160081800-160084400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:160081800-160084400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:160081800-160084800	Enhancers	Brain Hippocampus Middle	brain
8	chr1:160081800-160085200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:160081800-160085200	Enhancers	Psoas Muscle	Psoas
10	chr1:160081800-160085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:160081800-160085400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:160081800-160085400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:160081800-160085400	Enhancers	Ovary	ovary
14	chr1:160081800-160085600	Enhancers	Right Ventricle	heart
15	chr1:160082000-160085400	Enhancers	Placenta	Placenta
16	chr1:160082200-160085200	Enhancers	Fetal Heart	heart
17	chr1:160082400-160085200	Enhancers	Left Ventricle	heart
18	chr1:160082400-160085400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:160082400-160085400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:160082400-160085400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:160082400-160085400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:160082600-160084400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:160082600-160084600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:160082600-160085200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:160082600-160085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:160082600-160085200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:160082600-160085400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:160082600-160085400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:160082600-160085400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:160082600-160085400	Enhancers	Adipose Nuclei	Adipose
31	chr1:160082600-160085600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:160082600-160085600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:160082600-160085600	Weak transcription	Esophagus	oesophagus
34	chr1:160082600-160085600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:160083000-160085200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:160083000-160085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:160083200-160085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:160083400-160084800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:160083400-160085400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:160083400-160085400	Enhancers	HSMMtube	muscle
41	chr1:160083600-160084600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:160083600-160085000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:160083600-160085400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:160083800-160085000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:160083800-160085200	Enhancers	Brain Germinal Matrix	brain
46	chr1:160083800-160085200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:160083800-160085200	Enhancers	Fetal Stomach	stomach
48	chr1:160083800-160085400	Weak transcription	Aorta	Aorta
49	chr1:160083800-160085400	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:160083800-160085600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links