Variant report

Variant	rs562765790
Chromosome Location	chr1:151430190-151430191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
4	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
5	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
6	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
7	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
8	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
9	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
10	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
11	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
12	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
13	chr1:151428333..151430220-chr1:151430244..151432504,3	K562	blood:
14	chr1:151429853..151431454-chr1:151735705..151737586,2	K562	blood:
15	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
16	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
17	chr1:151429154..151431370-chr1:151947208..151949850,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-2	chr1:151429179-151430776	NONHSAT006396

No data

Variant related genes	Relation type
ENSG00000159377	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143375	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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3393715	chr1:151430153-151433301	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
5	esv3392140	chr1:151430178-151433126	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151428400-151430200	Enhancers	Fetal Lung	lung
4	chr1:151429200-151430400	Enhancers	Stomach Mucosa	stomach
5	chr1:151429200-151430400	Enhancers	Spleen	Spleen
6	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
7	chr1:151429400-151430200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151429400-151430200	Flanking Active TSS	Hela-S3	cervix
9	chr1:151429400-151430400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151429400-151430400	Enhancers	Fetal Heart	heart
11	chr1:151429400-151430400	Enhancers	Placenta	Placenta
12	chr1:151429400-151431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:151429600-151430200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151429600-151430200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:151429600-151430200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:151429600-151430200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:151429600-151430200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:151429600-151430200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:151429600-151430200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:151429600-151430200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:151429600-151430200	Flanking Active TSS	Liver	Liver
22	chr1:151429600-151430200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr1:151429600-151430200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:151429600-151430200	Flanking Active TSS	Fetal Brain Male	brain
25	chr1:151429600-151430200	Flanking Active TSS	HMEC	breast
26	chr1:151429600-151430600	Flanking Active TSS	Left Ventricle	heart
27	chr1:151429600-151430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:151429600-151430800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:151429600-151430800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:151429600-151431000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:151429600-151432000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:151429800-151430200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:151429800-151430200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:151429800-151430200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:151429800-151430200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:151429800-151430200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:151429800-151430200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:151429800-151430200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr1:151429800-151430200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:151429800-151430200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:151429800-151430200	Flanking Active TSS	HSMMtube	muscle
42	chr1:151429800-151430200	Flanking Active TSS	NHEK	skin
43	chr1:151429800-151430400	Enhancers	Lung	lung
44	chr1:151429800-151430600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr1:151429800-151430600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:151429800-151430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:151429800-151431000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr1:151429800-151431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:151429800-151431000	Active TSS	Right Atrium	heart
50	chr1:151429800-151431000	Flanking Active TSS	Dnd41	blood

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