Variant report

Variant	rs529218078
Chromosome Location	chr1:223204857-223204858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223204173..223206514-chr1:223207124..223209819,2	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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3342268	chr1:223204379-223205187	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3430376	chr1:223204529-223204991	Flanking Active TSS Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1971876	chr1:223204556-223204984	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3503317	chr1:223204597-223204928	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3503318	chr1:223204641-223204872	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3321233	chr1:223204651-223204879	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3503321	chr1:223204688-223204896	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223203200-223205400	Weak transcription	Left Ventricle	heart
2	chr1:223203200-223206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:223203400-223205600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:223203400-223205600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:223203400-223206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:223203600-223205000	Enhancers	Hela-S3	cervix
7	chr1:223203800-223205000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:223203800-223205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:223203800-223205600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:223204000-223205000	Enhancers	Brain Germinal Matrix	brain
11	chr1:223204000-223205200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:223204000-223205800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:223204000-223206000	Enhancers	Fetal Muscle Leg	muscle
14	chr1:223204200-223205000	Enhancers	Fetal Intestine Large	intestine
15	chr1:223204200-223205200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:223204200-223205400	Genic enhancers	Right Atrium	heart
17	chr1:223204400-223205000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:223204400-223205000	Weak transcription	Right Ventricle	heart
19	chr1:223204400-223205400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:223204400-223205800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:223204400-223205800	Enhancers	Adipose Nuclei	Adipose
22	chr1:223204400-223207400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:223204600-223205800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:223204600-223208000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:223204600-223208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:223204800-223205600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:223204800-223205800	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:223204800-223205800	Enhancers	Stomach Mucosa	stomach
29	chr1:223204800-223206000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:223204800-223206200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:223204800-223207400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:223204800-223208200	Enhancers	HUES64 Cell Line	embryonic stem cell

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