Variant report

Variant	rs554700242
Chromosome Location	chr5:80361447-80361448
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	FOXA1	chr5:80361371-80361586	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
RASGRF2	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv965553	chr5:80360468-80369049	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80319600-80374200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80337200-80368600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:80338200-80370600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:80338200-80376200	Weak transcription	NHLF	lung
5	chr5:80339200-80368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:80339800-80374200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:80343200-80366000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:80343200-80394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:80344400-80368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80344800-80382600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:80346400-80364800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:80346400-80365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:80346600-80367000	Weak transcription	Brain Angular Gyrus	brain
14	chr5:80353600-80375400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:80354200-80382400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:80354400-80367800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:80356200-80370400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:80356600-80374600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:80357800-80365800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:80360000-80361600	Enhancers	Brain Substantia Nigra	brain
21	chr5:80360000-80362600	Weak transcription	Left Ventricle	heart
22	chr5:80360400-80361600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:80360400-80364400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:80360600-80361800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:80360800-80361600	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:80360800-80361600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:80360800-80361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:80360800-80364000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:80361000-80363800	Weak transcription	Primary T cells from cord blood	blood
30	chr5:80361200-80361600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:80361200-80361600	Genic enhancers	HepG2	liver
32	chr5:80361400-80364000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:80361400-80374200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:80361400-80374600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:80361400-80374600	Weak transcription	Brain Inferior Temporal Lobe	brain

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