Variant report

Variant	rs530400532
Chromosome Location	chr1:45333495-45333496
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45315991..45318132-chr1:45331699..45334400,2	K562	blood:
2	chr1:45333473..45335576-chr1:45395595..45398411,2	K562	blood:

Variant related genes	Relation type
ENSG00000253039	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	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3342700	chr1:45333198-45333769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309000-45335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:45309200-45336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
5	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
6	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:45309400-45340000	Weak transcription	NHLF	lung
11	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
13	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
14	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
16	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
17	chr1:45313400-45343600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
19	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:45315000-45340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:45315000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:45315200-45345000	Weak transcription	Right Ventricle	heart
24	chr1:45315600-45343000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:45315800-45337600	Weak transcription	HepG2	liver
26	chr1:45316000-45336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:45316000-45337400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:45316000-45341000	Weak transcription	Thymus	Thymus
29	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:45316800-45340400	Weak transcription	Fetal Lung	lung
32	chr1:45316800-45340600	Weak transcription	Lung	lung
33	chr1:45317200-45334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
35	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:45322000-45340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:45322000-45350400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
39	chr1:45322800-45343400	Weak transcription	Brain Germinal Matrix	brain
40	chr1:45323000-45337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:45323400-45334200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:45323600-45334200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:45323600-45334200	Weak transcription	HSMM	muscle
44	chr1:45323600-45334400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:45323600-45337200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:45323800-45336000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:45324400-45334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:45325000-45337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:45325000-45337600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:45325000-45341000	Weak transcription	Pancreas	Pancrea

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