Variant report

Variant	rs72996134
Chromosome Location	chr6:133119097-133119098
allele	G/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	IRF1	chr6:133118742-133120554	K562	blood:	n/a	chr6:133119211-133119228 chr6:133119208-133119222 chr6:133119204-133119224 chr6:133120491-133120503 chr6:133119795-133119809 chr6:133119212-133119222 chr6:133119212-133119226 chr6:133120492-133120502
2	BRCA1	chr6:133119037-133119607	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr6:133118996-133120608	K562	blood:	n/a	n/a
4	MYC	chr6:133119066-133119167	MCF10A-Er-Src	breast:	n/a	n/a
5	TBL1XR1	chr6:133118693-133120507	K562	blood:	n/a	n/a
6	GATA1	chr6:133118648-133120688	K562	blood:	n/a	n/a
7	CUX1	chr6:133119009-133120493	K562	blood:	n/a	n/a
8	SPI1	chr6:133119086-133119294	GM12878	blood:	n/a	chr6:133119212-133119221 chr6:133119162-133119171
9	JUND	chr6:133118948-133120631	K562	blood:	n/a	chr6:133119846-133119855 chr6:133119847-133119856 chr6:133119843-133119852 chr6:133119680-133119689 chr6:133119844-133119853
10	SPI1	chr6:133119071-133119315	GM12878	blood:	n/a	chr6:133119212-133119221 chr6:133119162-133119171
11	TBP	chr6:133119097-133120363	Hela-S3	cervix:	n/a	n/a
12	SPI1	chr6:133118982-133119330	GM12891	blood:	n/a	chr6:133119212-133119221 chr6:133119162-133119171
13	POLR2A	chr6:133119071-133120381	GM12892	blood:	n/a	n/a
14	IRF1	chr6:133118982-133120534	K562	blood:	n/a	chr6:133119211-133119228 chr6:133119208-133119222 chr6:133119204-133119224 chr6:133120491-133120503 chr6:133119795-133119809 chr6:133119212-133119222 chr6:133119212-133119226 chr6:133120492-133120502
15	MYC	chr6:133119018-133120548	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
16	PML	chr6:133119073-133120513	GM12878	blood:	n/a	n/a
17	E2F4	chr6:133119061-133119254	MCF10A-Er-Src	breast:	n/a	n/a
18	TRIM28	chr6:133119079-133120624	K562	blood:	n/a	n/a
19	POLR2A	chr6:133119065-133120448	GM12891	blood:	n/a	n/a
20	SPI1	chr6:133119059-133119358	GM12891	blood:	n/a	chr6:133119212-133119221 chr6:133119162-133119171

No.	Distal block	Cell Line	Cell type
1	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
2	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
3	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
4	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:

Variant related genes	Relation type
SLC18B1	TF binding region
ENSG00000200534	Chromatin interaction
ENSG00000079950	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000221500	Chromatin interaction
ENSG00000112306	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56391066	1.00[AMR][1000 genomes]
rs72996126	0.89[AMR][1000 genomes]
rs73001963	0.81[EUR][1000 genomes]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:133089400-133119400	Weak transcription	Gastric	stomach
3	chr6:133089600-133119200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:133089600-133119200	Weak transcription	Right Ventricle	heart
5	chr6:133089600-133119200	Weak transcription	Stomach Mucosa	stomach
6	chr6:133089600-133119400	Weak transcription	Pancreas	Pancrea
7	chr6:133106600-133119200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:133108600-133119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:133110800-133119200	Weak transcription	Esophagus	oesophagus
10	chr6:133110800-133119200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:133114800-133119400	Weak transcription	Spleen	Spleen
12	chr6:133117200-133120600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:133117400-133119200	Weak transcription	Left Ventricle	heart
14	chr6:133118200-133120200	Active TSS	Fetal Lung	lung
15	chr6:133118200-133120400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:133118200-133120400	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:133118200-133120400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:133118200-133120600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:133118200-133120600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:133118200-133120600	Active TSS	Brain Anterior Caudate	brain
21	chr6:133118400-133119200	Active TSS	Fetal Brain Female	brain
22	chr6:133118400-133120200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:133118400-133120400	Active TSS	Placenta	Placenta
24	chr6:133118400-133120400	Active TSS	K562	blood
25	chr6:133118600-133119200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr6:133118600-133119200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:133118600-133120400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:133118600-133120400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:133118600-133120400	Active TSS	Hela-S3	cervix
30	chr6:133118800-133119200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:133118800-133119200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:133118800-133119200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr6:133118800-133119200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:133118800-133119200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr6:133118800-133119200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:133118800-133119200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:133118800-133119200	Flanking Active TSS	Liver	Liver
38	chr6:133118800-133119200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr6:133118800-133119200	Active TSS	HepG2	liver
40	chr6:133118800-133119400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:133118800-133119400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:133118800-133119400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:133118800-133119400	Flanking Active TSS	Fetal Brain Male	brain
44	chr6:133118800-133119400	Weak transcription	Small Intestine	intestine
45	chr6:133118800-133119600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:133118800-133120000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:133118800-133120200	Active TSS	Primary T cells fromperipheralblood	blood
48	chr6:133118800-133120200	Active TSS	Brain Angular Gyrus	brain
49	chr6:133118800-133120200	Active TSS	Fetal Heart	heart
50	chr6:133118800-133120200	Active TSS	Rectal Mucosa Donor 31	rectum

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