Variant report

Variant	rs60263379
Chromosome Location	chr6:33719257-33719258
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	MAZ	chr6:33718402-33719526	IMR90	lung:	n/a	chr6:33718465-33718472 chr6:33718464-33718473 chr6:33719036-33719045
2	TEAD4	chr6:33718945-33719257	K562	blood:	n/a	n/a
3	CTCF	chr6:33719183-33719268	ProgFib	skin:	n/a	n/a
4	CEBPB	chr6:33718932-33719285	HepG2	liver:	n/a	chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
5	STAT3	chr6:33718697-33719380	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr6:33718917-33719314	Hela-S3	cervix:	n/a	chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
7	CTCF	chr6:33719147-33719279	Fibrobl	skin:	n/a	n/a
8	CEBPB	chr6:33718329-33719335	HepG2	liver:	n/a	chr6:33718520-33718533 chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
9	CEBPB	chr6:33718396-33719323	HepG2	liver:	n/a	chr6:33718520-33718533 chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
10	CTCF	chr6:33719120-33719270	BJ	skin:	n/a	n/a
11	STAT3	chr6:33718325-33719340	MCF10A-Er-Src	breast:	n/a	chr6:33718546-33718558 chr6:33718535-33718546
12	STAT3	chr6:33718587-33719293	MCF10A-Er-Src	breast:	n/a	n/a
13	RCOR1	chr6:33718509-33719467	IMR90	lung:	n/a	n/a
14	TEAD4	chr6:33718950-33719328	K562	blood:	n/a	n/a
15	STAT3	chr6:33718396-33719279	MCF10A-Er-Src	breast:	n/a	chr6:33718546-33718558 chr6:33718535-33718546
16	FOS	chr6:33719017-33719301	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr6:33718717-33719344	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr6:33718855-33719348	IMR90	lung:	n/a	chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
19	CEBPB	chr6:33718815-33719408	MCF-7	breast:	n/a	chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
20	CEBPB	chr6:33718842-33719318	MCF-7	breast:	n/a	chr6:33719149-33719160 chr6:33719147-33719158 chr6:33719149-33719160 chr6:33719147-33719160
21	CTCF	chr6:33719120-33719270	HCFaa	heart:	n/a	n/a
22	RCOR1	chr6:33718963-33719347	K562	blood:	n/a	n/a
23	MYC	chr6:33718278-33719300	MCF10A-Er-Src	breast:	n/a	chr6:33718465-33718472 chr6:33718464-33718473 chr6:33719036-33719045 chr6:33718463-33718473
24	CTCF	chr6:33719157-33719271	NHEK	skin:	n/a	n/a
25	FOS	chr6:33718969-33719279	MCF10A-Er-Src	breast:	n/a	n/a
26	CTCF	chr6:33719057-33719257	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33717632..33719728-chr6:33734198..33737184,2	K562	blood:
2	chr6:33717351..33720634-chr6:33722895..33725009,3	K562	blood:
3	chr6:33716774..33719604-chr6:33722894..33724395,2	K562	blood:
4	chr6:33704352..33707039-chr6:33718768..33721610,2	MCF-7	breast:
5	chr6:33717001..33719930-chr6:33756204..33758503,2	MCF-7	breast:
6	chr6:33711960..33715900-chr6:33717224..33721956,7	MCF-7	breast:
7	chr6:33717929..33721430-chr6:33728075..33731260,3	MCF-7	breast:

Variant related genes	Relation type
IP6K3	TF binding region
ENSG00000161896	Chromatin interaction
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs41271255	1.00[EUR][1000 genomes]
rs60574396	0.95[AFR][1000 genomes]
rs60854312	1.00[EUR][1000 genomes]
rs6933952	1.00[EUR][1000 genomes]
rs73414139	1.00[EUR][1000 genomes]
rs73414141	1.00[EUR][1000 genomes]
rs73743206	1.00[EUR][1000 genomes]
rs73743207	1.00[EUR][1000 genomes]
rs7754339	1.00[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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33712400-33719600	Weak transcription	Gastric	stomach
2	chr6:33714800-33720600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33714800-33721000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:33714800-33722600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:33715000-33720600	Enhancers	Fetal Muscle Leg	muscle
6	chr6:33715200-33737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:33715600-33719400	Weak transcription	Left Ventricle	heart
8	chr6:33715600-33719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:33715600-33729400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:33716200-33720400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:33716400-33720600	Enhancers	Placenta	Placenta
12	chr6:33716600-33720600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:33717000-33723000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:33717600-33720400	Enhancers	HSMMtube	muscle
15	chr6:33717800-33719600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:33718000-33719800	Enhancers	Liver	Liver
17	chr6:33718000-33720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:33718000-33720200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:33718000-33721000	Enhancers	Stomach Mucosa	stomach
20	chr6:33718200-33719400	Weak transcription	Psoas Muscle	Psoas
21	chr6:33718200-33719600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:33718200-33719600	Enhancers	Right Atrium	heart
23	chr6:33718200-33719800	Enhancers	NHLF	lung
24	chr6:33718200-33719800	Enhancers	Osteobl	bone
25	chr6:33718200-33720200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33718200-33720600	Enhancers	Fetal Intestine Large	intestine
27	chr6:33718200-33720800	Enhancers	Fetal Lung	lung
28	chr6:33718400-33719600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:33718400-33719800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:33718400-33719800	Enhancers	NHDF-Ad	bronchial
31	chr6:33718400-33720400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:33718400-33720400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:33718400-33720600	Enhancers	Esophagus	oesophagus
34	chr6:33718400-33721000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:33718400-33721200	Enhancers	Fetal Thymus	thymus
36	chr6:33718400-33721400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:33718600-33719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:33718600-33720000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:33718600-33720000	Enhancers	Right Ventricle	heart
40	chr6:33718600-33720200	Enhancers	Spleen	Spleen
41	chr6:33718600-33720600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:33718600-33720600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:33718600-33720800	Enhancers	HMEC	breast
44	chr6:33718600-33721000	Enhancers	Colonic Mucosa	Colon
45	chr6:33718600-33721000	Enhancers	Fetal Intestine Small	intestine
46	chr6:33718800-33720600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:33718800-33721000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr6:33719000-33720200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:33719000-33720400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr6:33719000-33720600	Bivalent Enhancer	HepG2	liver

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