Variant report

Variant	rs1395561
Chromosome Location	chr1:154778838-154778839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154775266..154779197-chr1:154780006..154783599,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16836381	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55699206	1.00[AMR][1000 genomes]
rs6656385	1.00[AMR][1000 genomes]
rs6657775	1.00[AMR][1000 genomes]
rs6681539	1.00[AMR][1000 genomes]
rs6682049	1.00[AMR][1000 genomes]
rs6699247	1.00[AMR][1000 genomes]
rs6703251	1.00[AMR][1000 genomes]
rs73005428	1.00[AMR][1000 genomes]
rs73005429	1.00[AMR][1000 genomes]
rs73005493	1.00[AMR][1000 genomes]
rs73005497	1.00[AMR][1000 genomes]
rs73007703	1.00[AMR][1000 genomes]
rs74115892	1.00[AMR][1000 genomes]
rs74116261	1.00[AMR][1000 genomes]
rs74116267	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154764600-154779400	Weak transcription	Spleen	Spleen
2	chr1:154764800-154782600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:154771800-154779200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:154774600-154779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:154776400-154779000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:154776600-154779400	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:154776600-154779600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:154776600-154780200	Weak transcription	Brain Substantia Nigra	brain
9	chr1:154776600-154780400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:154776600-154780800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:154776800-154786000	Weak transcription	Fetal Brain Female	brain
12	chr1:154777600-154783200	Enhancers	Brain Anterior Caudate	brain
13	chr1:154777800-154780200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:154778000-154779200	Genic enhancers	GM12878-XiMat	blood
15	chr1:154778000-154779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:154778000-154779800	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:154778000-154779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:154778000-154780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:154778400-154779600	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:154778400-154779800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:154778400-154780000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:154778400-154781800	Enhancers	Right Atrium	heart
23	chr1:154778400-154783800	Enhancers	Fetal Thymus	thymus
24	chr1:154778600-154779000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:154778600-154779000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:154778600-154780000	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:154778600-154780200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:154778600-154780400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr1:154778600-154781800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr1:154778600-154781800	Enhancers	Right Ventricle	heart
31	chr1:154778600-154782000	Enhancers	Left Ventricle	heart
32	chr1:154778600-154782000	Enhancers	Psoas Muscle	Psoas
33	chr1:154778600-154782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:154778600-154783200	Enhancers	HSMMtube	muscle
35	chr1:154778800-154779000	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr1:154778800-154779000	Enhancers	Colon Smooth Muscle	Colon
37	chr1:154778800-154779000	Bivalent Enhancer	Fetal Kidney	kidney
38	chr1:154778800-154779000	Enhancers	Thymus	Thymus
39	chr1:154778800-154779800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:154778800-154780400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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