Variant report

Variant	rs546061247
Chromosome Location	chr1:227228643-227228644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227219115..227221995-chr1:227227439..227229511,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1012482	chr1:227212024-227271750	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv998420	chr1:227228591-227275031	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
3	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
4	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
5	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:227190600-227272600	Weak transcription	Lung	lung
7	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
8	chr1:227207600-227242000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:227209000-227231000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:227209000-227234600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:227210600-227245800	Weak transcription	NHEK	skin
14	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
15	chr1:227215600-227230400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:227216800-227231400	Weak transcription	A549	lung
17	chr1:227216800-227235000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:227216800-227239400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:227217000-227234000	Weak transcription	Fetal Brain Male	brain
21	chr1:227217000-227264400	Weak transcription	NHLF	lung
22	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
24	chr1:227217200-227241800	Weak transcription	HepG2	liver
25	chr1:227219600-227234800	Weak transcription	NH-A	brain
26	chr1:227220600-227231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:227220600-227236800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:227220600-227255800	Weak transcription	Gastric	stomach
29	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
30	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:227220800-227256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:227222000-227229400	Weak transcription	K562	blood
33	chr1:227222000-227253000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:227222600-227256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:227223000-227236600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:227223400-227245800	Weak transcription	Osteobl	bone
37	chr1:227224600-227229600	Strong transcription	HSMM	muscle
38	chr1:227226600-227235200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
40	chr1:227226800-227229200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:227226800-227233000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:227226800-227233400	Weak transcription	Fetal Stomach	stomach
43	chr1:227226800-227233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:227226800-227237800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:227226800-227238000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:227226800-227260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
50	chr1:227227000-227232600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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