Variant report

Variant	rs561792250
Chromosome Location	chr3:56595800-56595801
allele	C/T
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	chr3:56595702-56595822	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:56594842-56596030	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:56595109..56597404-chr3:56602239..56604027,2	K562	blood:

Variant related genes	Relation type
CCDC66	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56591800-56596000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:56591800-56599800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:56592000-56615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:56592200-56609400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:56592400-56596000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:56592400-56596000	Weak transcription	Fetal Stomach	stomach
7	chr3:56592400-56596800	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:56592400-56599800	Weak transcription	Fetal Lung	lung
9	chr3:56592400-56600000	Weak transcription	Ovary	ovary
10	chr3:56592400-56601200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:56592400-56601400	Weak transcription	Left Ventricle	heart
12	chr3:56592400-56601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:56592400-56601800	Weak transcription	Lung	lung
14	chr3:56592400-56602000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:56592400-56602800	Weak transcription	Esophagus	oesophagus
16	chr3:56592400-56602800	Weak transcription	Gastric	stomach
17	chr3:56592400-56602800	Weak transcription	Spleen	Spleen
18	chr3:56592400-56603000	Weak transcription	Pancreas	Pancrea
19	chr3:56592400-56607400	Weak transcription	Psoas Muscle	Psoas
20	chr3:56592400-56615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:56592400-56639800	Weak transcription	Right Ventricle	heart
22	chr3:56592400-56644800	Weak transcription	Small Intestine	intestine
23	chr3:56592600-56595800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:56592600-56596000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:56592600-56596000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:56592600-56598600	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:56592600-56598800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:56592600-56599600	Weak transcription	Thymus	Thymus
29	chr3:56592600-56600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:56592600-56600000	Weak transcription	Colonic Mucosa	Colon
31	chr3:56592600-56600200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:56592600-56600200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:56592600-56600200	Weak transcription	NHLF	lung
34	chr3:56592600-56601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:56592600-56601000	Weak transcription	HSMMtube	muscle
36	chr3:56592600-56601800	Weak transcription	Aorta	Aorta
37	chr3:56592600-56602200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:56592600-56602200	Weak transcription	Brain Germinal Matrix	brain
39	chr3:56592600-56602200	Weak transcription	Fetal Brain Male	brain
40	chr3:56592600-56603000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:56592600-56603800	Weak transcription	Stomach Mucosa	stomach
42	chr3:56592800-56595800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:56592800-56600400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:56592800-56602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:56592800-56602000	Weak transcription	Brain Angular Gyrus	brain
46	chr3:56592800-56602000	Weak transcription	A549	lung
47	chr3:56592800-56610200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:56592800-56644600	Weak transcription	Fetal Heart	heart
49	chr3:56593000-56602200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:56593000-56603000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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