Variant report

Variant	rs528846272
Chromosome Location	chr1:228102349-228102350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227926751..227929436-chr1:228101805..228104001,2	K562	blood:
2	chr1:228078454..228080145-chr1:228100152..228102991,2	MCF-7	breast:
3	chr1:228096764..228098830-chr1:228100833..228102833,2	K562	blood:
4	chr1:228075309..228077873-chr1:228100630..228103471,2	K562	blood:
5	chr1:228102020..228104817-chr1:228104964..228106972,3	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	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
7	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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 miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv873250	chr1:228051234-228121548	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
12	esv3453192	chr1:228102029-228106627	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3453193	chr1:228102029-228106627	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
2	chr1:228096400-228104400	Weak transcription	Gastric	stomach
3	chr1:228096800-228104000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:228098600-228102800	Weak transcription	NHEK	skin
5	chr1:228098600-228108600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
8	chr1:228099200-228108400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:228099400-228108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:228099400-228122400	Weak transcription	HSMM	muscle
11	chr1:228100200-228103400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:228100200-228105600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:228100400-228102400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:228100400-228102600	Enhancers	Brain Hippocampus Middle	brain
15	chr1:228100400-228103000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:228100400-228104000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:228100400-228104000	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:228100400-228104200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr1:228100400-228105800	Enhancers	Fetal Stomach	stomach
20	chr1:228100600-228102400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:228100600-228102800	Enhancers	Fetal Lung	lung
22	chr1:228100600-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:228100600-228104000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:228100600-228104000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:228100600-228104000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:228100600-228105000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:228100600-228105400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:228100600-228105800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:228100600-228108200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:228100800-228102400	Enhancers	Brain Substantia Nigra	brain
31	chr1:228100800-228102600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr1:228100800-228103000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:228100800-228104800	Enhancers	Esophagus	oesophagus
34	chr1:228100800-228105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:228101000-228102600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:228101000-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:228101000-228103800	Enhancers	Fetal Intestine Large	intestine
38	chr1:228101200-228102400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:228101200-228102400	Enhancers	Fetal Brain Male	brain
40	chr1:228101200-228103000	Enhancers	Ovary	ovary
41	chr1:228101200-228103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:228101200-228104400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:228101200-228110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:228101400-228104000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:228101400-228104000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:228101400-228104400	Weak transcription	Fetal Kidney	kidney
47	chr1:228101400-228105800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:228101400-228111000	Weak transcription	Fetal Brain Female	brain
49	chr1:228101600-228102400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:228101600-228103000	Enhancers	Spleen	Spleen

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