Variant report

Variant	rs565101218
Chromosome Location	chr1:45671664-45671665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45671664..45672380-chr14:21737105..21737971,2	Hela-S3	cervix:
2	chr1:45671523..45672244-chr14:102552911..102553832,2	Hela-S3	cervix:
3	chr1:45662426..45664020-chr1:45669808..45671855,2	MCF-7	breast:
4	chr1:45451641..45453252-chr1:45669605..45671686,2	MCF-7	breast:
5	chr1:45671129..45671995-chr2:75061126..75061693,2	Hela-S3	cervix:
6	chr1:45665465..45667003-chr1:45668749..45671725,2	K562	blood:
7	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
8	chr1:45670063..45672201-chr1:45674093..45675823,3	K562	blood:

Variant related genes	Relation type
ENSG00000092199	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000080824	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv3365432	chr1:45670715-45673638	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3444099	chr1:45670790-45673738	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45668000-45673800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45668600-45672800	Active TSS	Fetal Brain Female	brain
3	chr1:45669400-45673200	Active TSS	Brain Angular Gyrus	brain
4	chr1:45669400-45673400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:45669600-45672600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:45670000-45672600	Active TSS	Brain Anterior Caudate	brain
7	chr1:45670000-45672600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr1:45670000-45672800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:45670000-45673200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:45670000-45673400	Active TSS	Ovary	ovary
11	chr1:45670200-45672600	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:45670200-45672600	Active TSS	Brain Hippocampus Middle	brain
13	chr1:45670200-45672600	Active TSS	Duodenum Mucosa	Duodenum
14	chr1:45670200-45672800	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:45670400-45672600	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:45670400-45672600	Active TSS	Hela-S3	cervix
17	chr1:45670400-45673200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:45670600-45671800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:45670600-45672600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:45670600-45672600	Active TSS	Brain Substantia Nigra	brain
21	chr1:45670600-45672600	Active TSS	Fetal Intestine Small	intestine
22	chr1:45670600-45672600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:45670600-45672800	Active TSS	NHLF	lung
24	chr1:45670600-45673000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:45670600-45673000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:45670600-45673200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:45670600-45673200	Active TSS	Colonic Mucosa	Colon
28	chr1:45670800-45672400	Active TSS	Spleen	Spleen
29	chr1:45670800-45672600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:45670800-45672600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:45670800-45672800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:45670800-45672800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:45670800-45672800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:45670800-45672800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:45670800-45672800	Active TSS	Fetal Kidney	kidney
36	chr1:45670800-45672800	Bivalent/Poised TSS	HepG2	liver
37	chr1:45670800-45673000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:45670800-45673000	Active TSS	Pancreas	Pancrea
39	chr1:45671000-45672600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:45671000-45672600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:45671000-45672600	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:45671000-45672600	Active TSS	Psoas Muscle	Psoas
43	chr1:45671000-45672600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr1:45671000-45672800	Active TSS	Small Intestine	intestine
45	chr1:45671000-45672800	Bivalent/Poised TSS	Thymus	Thymus
46	chr1:45671000-45673000	Active TSS	Aorta	Aorta
47	chr1:45671000-45673000	Active TSS	Right Ventricle	heart
48	chr1:45671200-45671800	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr1:45671200-45672000	Bivalent/Poised TSS	GM12878-XiMat	blood
50	chr1:45671200-45672200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood

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