Variant report

Variant	rs529499042
Chromosome Location	chr1:227954305-227954306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227948805..227951027-chr1:227953567..227955861,2	MCF-7	breast:
2	chr1:227951099..227952899-chr1:227953091..227955822,2	K562	blood:
3	chr1:227952215..227955097-chr1:227966264..227970414,4	MCF-7	breast:
4	chr1:227954027..227955528-chr1:228133802..228136651,2	MCF-7	breast:
5	chr1:227948352..227950485-chr1:227952945..227955700,2	MCF-7	breast:
6	chr1:227953908..227955707-chr1:227958879..227960406,2	K562	blood:

Variant related genes	Relation type
ENSG00000143816	Chromatin interaction

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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	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
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3359559	chr1:227953029-227957427	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3331526	chr1:227953729-227956727	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3388809	chr1:227953729-227956927	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:227945800-227954800	Weak transcription	Fetal Kidney	kidney
3	chr1:227946000-227960400	Strong transcription	Fetal Brain Female	brain
4	chr1:227947600-227954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:227947800-227955400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:227948200-227954600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:227948400-227955400	Weak transcription	Psoas Muscle	Psoas
8	chr1:227948400-227956000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:227948600-227955600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:227949200-227954400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:227949200-227954800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:227949200-227956000	Genic enhancers	Fetal Thymus	thymus
13	chr1:227949400-227954400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:227949400-227954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:227949600-227954400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:227949600-227955400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:227949600-227955600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:227949800-227954600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227950000-227954600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:227950200-227954600	Weak transcription	HepG2	liver
21	chr1:227950200-227955000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227950200-227955200	Weak transcription	Ovary	ovary
23	chr1:227950600-227954600	Weak transcription	Primary B cells from cord blood	blood
24	chr1:227950600-227954600	Weak transcription	Fetal Brain Male	brain
25	chr1:227950800-227954800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:227950800-227963000	Strong transcription	Brain Germinal Matrix	brain
27	chr1:227950800-227974200	Weak transcription	Small Intestine	intestine
28	chr1:227951000-227954600	Strong transcription	Liver	Liver
29	chr1:227951000-227958600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:227951000-227963200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:227951200-227954600	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:227951200-227954800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:227951200-227956600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:227951200-227974400	Weak transcription	Right Atrium	heart
35	chr1:227951400-227954400	Strong transcription	Right Ventricle	heart
36	chr1:227951400-227963200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:227951600-227954600	Weak transcription	Left Ventricle	heart
38	chr1:227951600-227955000	Weak transcription	Fetal Heart	heart
39	chr1:227951600-227961800	Strong transcription	Fetal Stomach	stomach
40	chr1:227951600-227963600	Weak transcription	HUVEC	blood vessel
41	chr1:227951800-227958600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:227951800-227970600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:227952000-227954600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:227952000-227954600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:227952000-227954600	Weak transcription	Osteobl	bone
46	chr1:227952000-227954800	Weak transcription	K562	blood
47	chr1:227952000-227955000	Weak transcription	NH-A	brain
48	chr1:227952000-227959000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:227952000-227962000	Weak transcription	NHDF-Ad	bronchial
50	chr1:227952200-227954400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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