Variant report

Variant	rs537250266
Chromosome Location	chr2:37547636-37547637
allele	A/G
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	POU2F2	chr2:37547539-37547809	GM12891	blood:	n/a	n/a
2	STAT3	chr2:37547497-37547642	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37533634..37536747-chr2:37545712..37547706,3	K562	blood:
2	chr2:37540781..37542934-chr2:37546496..37548956,2	MCF-7	breast:
3	chr2:37533235..37535380-chr2:37546761..37548910,2	MCF-7	breast:
4	chr2:37545726..37548175-chr2:37554305..37557162,2	K562	blood:

Variant related genes	Relation type
ENSG00000232028	TF binding region
PRKD3	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
2	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37519000-37549400	Weak transcription	HSMM	muscle
5	chr2:37520200-37549600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:37520400-37549600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:37520400-37550400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:37530400-37548400	Weak transcription	K562	blood
9	chr2:37530600-37548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37530600-37550400	Weak transcription	Thymus	Thymus
11	chr2:37530800-37548600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:37530800-37549600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:37531000-37548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:37533200-37550400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:37533800-37549400	Weak transcription	Fetal Intestine Small	intestine
16	chr2:37534000-37550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:37534400-37550400	Weak transcription	Lung	lung
18	chr2:37534400-37550600	Weak transcription	Left Ventricle	heart
19	chr2:37534600-37548400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:37534800-37548400	Weak transcription	A549	lung
21	chr2:37534800-37548800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:37535000-37548400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:37535000-37548600	Weak transcription	HUVEC	blood vessel
24	chr2:37535000-37549400	Weak transcription	Hela-S3	cervix
25	chr2:37535400-37548600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:37537000-37550400	Weak transcription	HSMMtube	muscle
27	chr2:37538400-37549600	Weak transcription	Psoas Muscle	Psoas
28	chr2:37538600-37548600	Weak transcription	Liver	Liver
29	chr2:37539000-37548400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:37539800-37548600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:37539800-37548800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:37540600-37548600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:37542000-37550400	Weak transcription	Colonic Mucosa	Colon
34	chr2:37542400-37548400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:37542400-37550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:37542800-37548400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:37542800-37548400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:37542800-37549600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:37542800-37550800	Weak transcription	Gastric	stomach
40	chr2:37543000-37550400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:37543400-37548400	Enhancers	Colon Smooth Muscle	Colon
42	chr2:37543600-37548400	Weak transcription	Spleen	Spleen
43	chr2:37543600-37548400	Weak transcription	HepG2	liver
44	chr2:37543600-37548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:37543600-37548800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:37543600-37548800	Weak transcription	Small Intestine	intestine
47	chr2:37543600-37549400	Weak transcription	Right Atrium	heart
48	chr2:37543600-37550400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:37543800-37548400	Weak transcription	Primary T cells from cord blood	blood
50	chr2:37543800-37550600	Weak transcription	Fetal Brain Male	brain

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