Variant report

Variant	rs568603619
Chromosome Location	chr6:144068940-144068941
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	POLR2A	chr6:144065560-144069107	HepG2	liver:	n/a	n/a
2	HDAC2	chr6:144068389-144068997	HepG2	liver:	n/a	chr6:144068839-144068848 chr6:144068590-144068599
3	BHLHE40	chr6:144068428-144069066	K562	blood:	n/a	n/a
4	FOXA2	chr6:144067886-144069082	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:144068292-144069084	HepG2	liver:	n/a	n/a
6	BRCA1	chr6:144068926-144068968	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFF	chr6:144068791-144069079	HepG2	liver:	n/a	chr6:144068923-144068941
8	MAFK	chr6:144068775-144069082	HepG2	liver:	n/a	n/a
9	FOXA1	chr6:144068275-144069153	HepG2	liver:	n/a	n/a
10	EP300	chr6:144068546-144069044	HepG2	liver:	n/a	chr6:144068589-144068599
11	MAFK	chr6:144068637-144069097	HepG2	liver:	n/a	n/a
12	EP300	chr6:144068249-144069125	HepG2	liver:	n/a	chr6:144068589-144068599
13	NFIC	chr6:144068324-144069055	HepG2	liver:	n/a	n/a
14	TEAD4	chr6:144068239-144069139	HepG2	liver:	n/a	n/a
15	MAFF	chr6:144068878-144069016	K562	blood:	n/a	chr6:144068923-144068941
16	ATF1	chr6:144068421-144069008	K562	blood:	n/a	n/a
17	TBP	chr6:144068489-144068963	HepG2	liver:	n/a	n/a
18	TEAD4	chr6:144068349-144068950	K562	blood:	n/a	n/a
19	SP1	chr6:144068287-144069037	HepG2	liver:	n/a	n/a
20	MYBL2	chr6:144068351-144069203	HepG2	liver:	n/a	n/a
21	MAFK	chr6:144068863-144069040	K562	blood:	n/a	n/a
22	TCF7L2	chr6:144068122-144069005	HepG2	liver:	n/a	n/a
23	FOXA2	chr6:144068373-144069065	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144063490..144065500-chr6:144068197..144069773,2	K562	blood:
2	chr6:143831191..143834659-chr6:144066379..144069896,4	MCF-7	breast:

Variant related genes	Relation type
PHACTR2	TF binding region
ENSG00000001036	Chromatin interaction

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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv5513	chr6:144068006-144102028	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144038600-144075400	Weak transcription	NHEK	skin
2	chr6:144046200-144074600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:144053400-144076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:144053600-144073600	Weak transcription	Osteobl	bone
5	chr6:144053600-144075400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:144053600-144075600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:144059800-144077000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:144060200-144078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:144060600-144074600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:144060800-144074400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:144061000-144079800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr6:144061000-144086600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:144063000-144075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:144063400-144069000	Enhancers	Left Ventricle	heart
17	chr6:144063400-144069200	Enhancers	Fetal Heart	heart
18	chr6:144063400-144070600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:144063400-144071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:144063600-144069000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:144063600-144076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:144063800-144075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:144063800-144086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:144064400-144071400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:144064400-144074400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:144064600-144069000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:144064600-144076800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:144064800-144071000	Enhancers	Fetal Intestine Large	intestine
29	chr6:144064800-144075400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:144064800-144086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:144065600-144069800	Enhancers	Placenta	Placenta
32	chr6:144066400-144076400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:144066600-144075400	Weak transcription	Liver	Liver
34	chr6:144066600-144081000	Weak transcription	Esophagus	oesophagus
35	chr6:144066800-144080600	Weak transcription	Spleen	Spleen
36	chr6:144067000-144069000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:144067000-144069000	Enhancers	Fetal Stomach	stomach
38	chr6:144067000-144069000	Enhancers	Stomach Mucosa	stomach
39	chr6:144067000-144075800	Weak transcription	HUVEC	blood vessel
40	chr6:144067000-144076400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:144067000-144077200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:144067000-144081000	Weak transcription	Brain Angular Gyrus	brain
43	chr6:144067000-144083000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:144067200-144069200	Enhancers	Fetal Muscle Leg	muscle
45	chr6:144067200-144070000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:144067200-144070000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:144067200-144073800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:144067400-144069000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:144067400-144069000	Enhancers	Right Atrium	heart
50	chr6:144067400-144070000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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