Variant report

Variant	rs7591091
Chromosome Location	chr2:179754194-179754195
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	EP300	chr2:179753978-179754597	SK-N-SH_RA	brain:	n/a	chr2:179754175-179754189
2	TCF12	chr2:179753934-179754845	SK-N-SH	brain:	n/a	chr2:179754513-179754521
3	EP300	chr2:179754106-179754532	SK-N-SH_RA	brain:	n/a	chr2:179754175-179754189
4	GATA3	chr2:179753938-179754767	SK-N-SH	brain:	n/a	chr2:179754191-179754201

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179753736..179754555-chr2:179779013..179779601,2	K562	blood:

Variant related genes	Relation type
CCDC141	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73973180	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
9	chr2:179739800-179755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:179748000-179760800	Weak transcription	Right Atrium	heart
11	chr2:179748400-179756000	Weak transcription	Ovary	ovary
12	chr2:179748600-179761400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:179749400-179756400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:179749800-179755000	Weak transcription	Left Ventricle	heart
16	chr2:179749800-179755400	Weak transcription	Fetal Heart	heart
17	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:179751200-179755000	Weak transcription	Psoas Muscle	Psoas
19	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
20	chr2:179752400-179754800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:179753200-179756000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:179753400-179754200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:179753400-179756800	Weak transcription	HSMMtube	muscle
24	chr2:179753400-179760800	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:179753600-179756400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:179753600-179759000	Weak transcription	Primary T cells from cord blood	blood
27	chr2:179753600-179768600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:179753600-179768600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:179754000-179754200	Enhancers	Adipose Nuclei	Adipose

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