Variant report

Variant	rs142688824
Chromosome Location	chr1:227295741-227295742
allele	-/AACT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227288769..227292259-chr1:227294331..227298471,4	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv522990	chr1:227290139-227302912	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
3	chr1:227247400-227299800	Weak transcription	HMEC	breast
4	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
7	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:227272800-227331000	Weak transcription	Lung	lung
9	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:227279800-227299000	Weak transcription	Placenta	Placenta
13	chr1:227280800-227298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:227285600-227297600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:227285600-227308600	Weak transcription	Pancreas	Pancrea
17	chr1:227285600-227313800	Weak transcription	Gastric	stomach
18	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
19	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
20	chr1:227288000-227326400	Weak transcription	A549	lung
21	chr1:227288200-227296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:227288400-227297600	Weak transcription	NH-A	brain
24	chr1:227288400-227299400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:227288400-227299400	Weak transcription	Ovary	ovary
26	chr1:227288400-227299600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:227288400-227299600	Weak transcription	Osteobl	bone
28	chr1:227288400-227302200	Weak transcription	Fetal Brain Male	brain
29	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:227288600-227296200	Weak transcription	K562	blood
32	chr1:227288600-227298600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:227288600-227298600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:227288600-227298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:227288600-227299200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:227288600-227299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:227288600-227299200	Weak transcription	Aorta	Aorta
38	chr1:227288600-227299200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:227288600-227299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:227288600-227299600	Weak transcription	Brain Anterior Caudate	brain
41	chr1:227288600-227310800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
46	chr1:227288600-227332400	Weak transcription	NHLF	lung
47	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
48	chr1:227288800-227299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:227288800-227317200	Weak transcription	NHEK	skin
50	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial

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