Variant report

Variant	rs539688127
Chromosome Location	chr1:228135174-228135175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
2	chr1:228128193..228132003-chr1:228132864..228136285,5	K562	blood:
3	chr1:227668674..227670909-chr1:228132996..228135625,2	K562	blood:
4	chr1:228129106..228132233-chr1:228133265..228135585,4	MCF-7	breast:
5	chr1:227922958..227924817-chr1:228133058..228135872,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237193	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000264483	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	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
7	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
8	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
9	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
10	esv3344015	chr1:228134354-228137302	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv3428054	chr1:228134779-228136852	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228133600-228135400	Flanking Active TSS	Colonic Mucosa	Colon
2	chr1:228133800-228135200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:228133800-228135200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:228133800-228135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:228133800-228135400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:228133800-228136400	Active TSS	NHLF	lung
7	chr1:228134000-228135400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:228134000-228136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:228134000-228136000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:228134000-228136200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:228134000-228136400	Active TSS	Psoas Muscle	Psoas
12	chr1:228134200-228135200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr1:228134200-228135200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr1:228134200-228135400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:228134200-228136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:228134200-228136200	Enhancers	Liver	Liver
17	chr1:228134200-228136200	Active TSS	HSMM	muscle
18	chr1:228134200-228136400	Active TSS	Ovary	ovary
19	chr1:228134200-228136400	Active TSS	HSMMtube	muscle
20	chr1:228134200-228136800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:228134400-228135200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:228134400-228135200	Active TSS	Fetal Heart	heart
23	chr1:228134400-228135400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr1:228134400-228135400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr1:228134400-228135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:228134400-228136000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:228134400-228136200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:228134400-228136200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:228134400-228136200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:228134400-228136200	Active TSS	Brain Anterior Caudate	brain
31	chr1:228134400-228136200	Active TSS	Colon Smooth Muscle	Colon
32	chr1:228134400-228136200	Active TSS	Esophagus	oesophagus
33	chr1:228134400-228136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr1:228134400-228136200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:228134400-228136200	Active TSS	Fetal Stomach	stomach
36	chr1:228134400-228136200	Active TSS	Gastric	stomach
37	chr1:228134400-228136200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:228134400-228136200	Active TSS	A549	lung
39	chr1:228134400-228136400	Active TSS	Left Ventricle	heart
40	chr1:228134400-228136400	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:228134400-228136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:228134400-228136800	Active TSS	Hela-S3	cervix
43	chr1:228134600-228135200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr1:228134600-228135200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr1:228134600-228135200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr1:228134600-228135200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
47	chr1:228134600-228135200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:228134600-228135200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
49	chr1:228134600-228135200	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr1:228134600-228135200	Bivalent Enhancer	Stomach Mucosa	stomach

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