Variant report

Variant	rs534104561
Chromosome Location	chr2:172565445-172565446
allele	C/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	FOS	chr2:172565425-172565864	HUVEC	blood vessel:	n/a	chr2:172565681-172565690 chr2:172565682-172565693 chr2:172565681-172565688 chr2:172565681-172565689 chr2:172565680-172565689 chr2:172565679-172565690 chr2:172565679-172565691

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172543004..172545570-chr2:172563636..172565451,2	K562	blood:

Variant related genes	Relation type
DYNC1I2	TF binding region
ENSG00000077380	Chromatin interaction

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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545000-172580200	Weak transcription	Pancreas	Pancrea
2	chr2:172545000-172580400	Weak transcription	Spleen	Spleen
3	chr2:172545000-172580800	Weak transcription	Gastric	stomach
4	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172545800-172573000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172545800-172575400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
9	chr2:172546000-172567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172546000-172568600	Weak transcription	Hela-S3	cervix
11	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
12	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
13	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
14	chr2:172548200-172571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:172550200-172567800	Weak transcription	Dnd41	blood
17	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:172552200-172573400	Weak transcription	Fetal Brain Female	brain
19	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:172554000-172580200	Weak transcription	Aorta	Aorta
21	chr2:172554400-172566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
23	chr2:172554600-172572000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:172554600-172572200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:172554800-172580400	Weak transcription	K562	blood
26	chr2:172555000-172566400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:172555000-172571800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172555000-172571800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:172555000-172580200	Weak transcription	Brain Anterior Caudate	brain
30	chr2:172555600-172566400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:172556800-172568600	Weak transcription	Fetal Kidney	kidney
32	chr2:172557000-172566200	Weak transcription	Left Ventricle	heart
33	chr2:172557000-172568600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:172557000-172571800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:172557400-172584400	Weak transcription	Ovary	ovary
36	chr2:172557600-172572200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:172558000-172574600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:172558800-172571800	Weak transcription	Liver	Liver
39	chr2:172558800-172583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:172559000-172568000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:172559000-172585000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:172559600-172566200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:172559600-172567800	Weak transcription	NHLF	lung
44	chr2:172559600-172572000	Weak transcription	GM12878-XiMat	blood
45	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
46	chr2:172559800-172566600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:172559800-172571600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:172559800-172571600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:172559800-172571800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:172560000-172566400	Weak transcription	Primary T cells fromperipheralblood	blood

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