Variant report

Variant	rs553538344
Chromosome Location	chr1:225656887-225656888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:225654364-225657030	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225654995..225657413-chr1:226069983..226072182,2	MCF-7	breast:
2	chr1:225655109..225657230-chr1:226022691..226024869,2	K562	blood:

Variant related genes	Relation type
ENSG00000234476	TF binding region
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225649800-225662600	Weak transcription	Pancreas	Pancrea
2	chr1:225651400-225662400	Weak transcription	Fetal Brain Male	brain
3	chr1:225653600-225662400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:225653600-225662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:225653800-225659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:225655400-225662400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:225655600-225658800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:225655600-225677000	Weak transcription	Right Atrium	heart
9	chr1:225655800-225658000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:225655800-225658000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:225655800-225658600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:225655800-225661200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:225655800-225661800	Weak transcription	Spleen	Spleen
14	chr1:225655800-225662000	Weak transcription	Right Ventricle	heart
15	chr1:225656000-225657000	Enhancers	Primary B cells from cord blood	blood
16	chr1:225656000-225659200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:225656200-225657000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr1:225656200-225657200	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:225656200-225657200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:225656200-225657200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:225656200-225659800	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:225656400-225657000	Enhancers	Primary T cells from cord blood	blood
23	chr1:225656400-225657000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr1:225656400-225657200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:225656400-225657200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:225656400-225657200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:225656400-225657400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:225656400-225657400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:225656400-225657400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:225656400-225657400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:225656400-225657800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:225656400-225658000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:225656400-225658000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:225656400-225660000	Enhancers	Fetal Thymus	thymus
35	chr1:225656400-225662400	Weak transcription	Liver	Liver
36	chr1:225656400-225662600	Weak transcription	Thymus	Thymus
37	chr1:225656600-225657200	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:225656600-225657600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:225656600-225661800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:225656600-225662000	Weak transcription	Lung	lung
41	chr1:225656600-225662600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:225656800-225661000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:225656800-225662400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:225656800-225662800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:225656800-225663000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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