Variant report

Variant	rs571497332
Chromosome Location	chr1:228370486-228370487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228326194..228329477-chr1:228370427..228373413,3	K562	blood:
2	chr1:228360879..228362899-chr1:228368944..228370884,2	MCF-7	breast:
3	chr1:228367725..228372821-chr1:228377689..228380181,6	MCF-7	breast:
4	chr1:228362275..228366557-chr1:228367502..228371326,4	MCF-7	breast:
5	chr1:228368663..228372025-chr1:228373776..228376708,3	K562	blood:
6	chr1:228352047..228354413-chr1:228369198..228370701,2	MCF-7	breast:
7	chr1:228369516..228372082-chr1:228373612..228375927,2	K562	blood:

Variant related genes	Relation type
ENSG00000143774	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000203684	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
10	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
12	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
13	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
14	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
15	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv3399981	chr1:228369154-228371702	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3323831	chr1:228369679-228371077	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
2	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
4	chr1:228354800-228370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:228354800-228371200	Weak transcription	HSMMtube	muscle
6	chr1:228354800-228373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:228355000-228370600	Weak transcription	HepG2	liver
8	chr1:228355000-228372400	Weak transcription	Stomach Mucosa	stomach
9	chr1:228355000-228373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:228355000-228373200	Weak transcription	Hela-S3	cervix
11	chr1:228363200-228373200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:228363200-228373200	Weak transcription	Fetal Thymus	thymus
13	chr1:228363400-228375000	Weak transcription	Esophagus	oesophagus
14	chr1:228363400-228375800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:228363400-228386400	Weak transcription	Brain Angular Gyrus	brain
16	chr1:228363600-228373200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:228363600-228374800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:228363800-228373400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:228363800-228385200	Weak transcription	Adipose Nuclei	Adipose
20	chr1:228364000-228371600	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:228364000-228373000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:228364000-228373000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:228364000-228373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:228364000-228384800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:228364200-228371800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:228364400-228386600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:228364400-228388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:228364600-228373000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:228364600-228386600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:228364800-228370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:228364800-228373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:228364800-228375800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:228364800-228385600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:228365000-228371600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:228365000-228373000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:228365000-228377600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:228365000-228379600	Weak transcription	Gastric	stomach
38	chr1:228365000-228380400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:228365200-228375400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:228365200-228386600	Weak transcription	Thymus	Thymus
41	chr1:228365200-228387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:228365600-228370600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:228365800-228375800	Weak transcription	Fetal Brain Female	brain
44	chr1:228365800-228382600	Weak transcription	Spleen	Spleen
45	chr1:228366000-228386400	Weak transcription	Primary B cells from cord blood	blood
46	chr1:228366600-228370600	Weak transcription	Primary T cells from cord blood	blood
47	chr1:228366800-228371800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:228366800-228379600	Weak transcription	Placenta	Placenta
49	chr1:228366800-228385200	Weak transcription	Ovary	ovary
50	chr1:228366800-228386600	Weak transcription	Stomach Smooth Muscle	stomach

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