Variant report

Variant	rs533347847
Chromosome Location	chr3:42640400-42640401
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	GATA3	chr3:42640335-42640432	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42629943..42634676-chr3:42635408..42643782,10	MCF-7	breast:
2	chr3:42640361..42643591-chr3:42693270..42696162,5	K562	blood:
3	chr3:42621283..42625330-chr3:42639303..42643596,7	MCF-7	breast:
4	chr3:42639395..42643636-chr3:42699754..42702498,4	K562	blood:

Variant related genes	Relation type
NKTR	TF binding region
ENSG00000008324	Chromatin interaction
ENSG00000093183	Chromatin interaction
ENSG00000230084	Chromatin interaction
ENSG00000114853	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	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3415147	chr3:42638848-42641746	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
3	esv3404290	chr3:42638948-42643146	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3463324	chr3:42639905-42640813	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3463325	chr3:42640011-42640650	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42633200-42641400	Weak transcription	Aorta	Aorta
2	chr3:42633200-42641600	Weak transcription	Gastric	stomach
3	chr3:42633400-42641200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:42633400-42641200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr3:42633400-42641200	Weak transcription	HSMMtube	muscle
6	chr3:42633400-42641400	Weak transcription	Ovary	ovary
7	chr3:42633400-42641400	Weak transcription	Psoas Muscle	Psoas
8	chr3:42633400-42641400	Weak transcription	Right Ventricle	heart
9	chr3:42633400-42641600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:42633400-42641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:42633400-42641600	Weak transcription	Esophagus	oesophagus
12	chr3:42633400-42641600	Weak transcription	Spleen	Spleen
13	chr3:42633600-42641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:42633600-42641200	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:42633600-42641200	Weak transcription	Fetal Kidney	kidney
16	chr3:42633600-42641200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:42633600-42641200	Weak transcription	Right Atrium	heart
18	chr3:42633600-42641200	Weak transcription	NHEK	skin
19	chr3:42633600-42641400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:42633600-42641400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:42633600-42641400	Weak transcription	Brain Anterior Caudate	brain
22	chr3:42633600-42641600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:42633600-42641600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:42633600-42641600	Weak transcription	Pancreas	Pancrea
25	chr3:42633800-42641200	Weak transcription	Brain Germinal Matrix	brain
26	chr3:42634000-42641200	Weak transcription	Fetal Intestine Small	intestine
27	chr3:42634000-42641600	Weak transcription	Lung	lung
28	chr3:42634400-42641200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:42634600-42641200	Weak transcription	Fetal Brain Male	brain
30	chr3:42635400-42641200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:42635400-42641200	Weak transcription	Brain Angular Gyrus	brain
32	chr3:42635600-42640800	Weak transcription	Hela-S3	cervix
33	chr3:42635600-42641200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:42635600-42641200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:42635600-42641200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:42635600-42641200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:42635600-42641200	Weak transcription	Fetal Stomach	stomach
38	chr3:42635600-42641200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:42635600-42641400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:42635600-42641600	Weak transcription	Small Intestine	intestine
41	chr3:42635800-42641200	Weak transcription	HepG2	liver
42	chr3:42636000-42641200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:42636000-42641200	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:42636000-42641200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr3:42636000-42641400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:42636200-42641200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:42636200-42641200	Weak transcription	A549	lung
48	chr3:42636400-42640800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:42636400-42641200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:42636400-42641200	Weak transcription	Brain Substantia Nigra	brain

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