Variant report

Variant	rs558062647
Chromosome Location	chr3:101357596-101357597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101356897..101358626-chr3:101404065..101405889,2	K562	blood:
2	chr3:101354125..101359417-chr3:101402279..101407297,7	K562	blood:
3	chr3:101100587..101101297-chr3:101356616..101357604,3	MCF-7	breast:
4	chr3:101290462..101294650-chr3:101353869..101359325,5	MCF-7	breast:
5	chr3:101279160..101282179-chr3:101355141..101357890,3	MCF-7	breast:
6	chr3:101290829..101293797-chr3:101356493..101360609,3	K562	blood:

Variant related genes	Relation type
ENSG00000081154	Chromatin interaction
ENSG00000174173	Chromatin interaction
ENSG00000114391	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv992869	chr3:101348433-101360316	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv511216	chr3:101349644-101366921	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv3437268	chr3:101355562-101360160	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3463450	chr3:101356762-101361660	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3463448	chr3:101357151-101360053	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3463447	chr3:101357434-101359841	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3463449	chr3:101357490-101359817	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3385035	chr3:101357527-101359767	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv4740	chr3:101357530-101359902	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3463446	chr3:101357552-101359752	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv591178	chr3:101357566-101359265	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv591179	chr3:101357566-101359321	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv591180	chr3:101357566-101359530	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv591181	chr3:101357566-101359623	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3463451	chr3:101357566-101359748	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv11133	chr3:101357579-101359974	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101350600-101366800	Weak transcription	Fetal Brain Female	brain
2	chr3:101354800-101366800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:101355000-101366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101355200-101363000	Weak transcription	Fetal Thymus	thymus
5	chr3:101355200-101365000	Weak transcription	Right Atrium	heart
6	chr3:101355200-101367400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:101355200-101367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:101355600-101366400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:101355600-101366600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:101355600-101366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:101355600-101366600	Weak transcription	Adipose Nuclei	Adipose
12	chr3:101355600-101367000	Weak transcription	A549	lung
13	chr3:101355600-101367000	Weak transcription	Dnd41	blood
14	chr3:101355600-101367400	Weak transcription	Right Ventricle	heart
15	chr3:101355600-101368600	Weak transcription	GM12878-XiMat	blood
16	chr3:101356000-101367400	Weak transcription	Aorta	Aorta
17	chr3:101356400-101357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:101356600-101357600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:101356600-101357800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:101356600-101358000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:101356800-101357800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:101356800-101357800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:101356800-101357800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:101356800-101362400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:101357000-101357600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:101357000-101357800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:101357000-101357800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:101357000-101357800	Active TSS	K562	blood
29	chr3:101357200-101357600	Active TSS	HepG2	liver
30	chr3:101357400-101357600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:101357400-101361400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:101357400-101362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:101357400-101362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:101357400-101362200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:101357400-101362400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:101357400-101366600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:101357400-101367400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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