Variant report

Variant	rs28384404
Chromosome Location	chr6:144416861-144416862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:529)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr6:144416458-144417075	K562	blood:	n/a	chr6:144416807-144416822 chr6:144416810-144416827 chr6:144416810-144416827 chr6:144416804-144416815
2	RELA	chr6:144416436-144417112	GM10847	blood:	n/a	n/a
3	POU2F2	chr6:144416533-144417005	GM12878	blood:	n/a	n/a
4	USF1	chr6:144416754-144417074	SK-N-SH_RA	brain:	n/a	n/a
5	RELA	chr6:144416468-144417700	GM15510	blood:	n/a	n/a
6	HEY1	chr6:144416378-144417183	K562	blood:	n/a	n/a
7	FOS	chr6:144416633-144417033	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr6:144416356-144416988	HepG2	liver:	n/a	n/a
9	REST	chr6:144416392-144417055	HepG2	liver:	n/a	n/a
10	MAX	chr6:144415880-144417414	K562	blood:	n/a	chr6:144416866-144416876
11	POLR2A	chr6:144414988-144417802	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:144416048-144417814	GM12892	blood:	n/a	n/a
13	GTF2F1	chr6:144415850-144417088	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:144415869-144417678	Raji	blood:	n/a	n/a
15	TBP	chr6:144416264-144417117	H1-hESC	embryonic stem cell:	n/a	n/a
16	TBL1XR1	chr6:144416533-144417130	K562	blood:	n/a	n/a
17	POLR2A	chr6:144416230-144417742	K562	blood:	n/a	n/a
18	E2F4	chr6:144416506-144417056	MCF10A-Er-Src	breast:	n/a	n/a
19	POU2F2	chr6:144416437-144417064	GM12878	blood:	n/a	n/a
20	ARID3A	chr6:144416543-144417077	HepG2	liver:	n/a	n/a
21	NFYB	chr6:144416509-144417095	K562	blood:	n/a	n/a
22	MXI1	chr6:144416069-144417211	GM12878	blood:	n/a	chr6:144416840-144416855
23	ATF3	chr6:144416403-144417001	A549	lung:	n/a	n/a
24	FOS	chr6:144416691-144416992	MCF10A-Er-Src	breast:	n/a	n/a
25	ELF1	chr6:144416371-144417201	SK-N-SH	brain:	n/a	chr6:144417001-144417010 chr6:144416999-144417012 chr6:144416804-144416813
26	MXI1	chr6:144416019-144417193	HepG2	liver:	n/a	chr6:144416840-144416855
27	PML	chr6:144416231-144417906	GM12878	blood:	n/a	n/a
28	TEAD4	chr6:144416408-144416875	A549	lung:	n/a	n/a
29	SIX5	chr6:144416612-144417072	K562	blood:	n/a	n/a
30	POLR2A	chr6:144416312-144417126	GM12878	blood:	n/a	n/a
31	MAX	chr6:144416097-144417206	ECC-1	luminal epithelium:	n/a	chr6:144416866-144416876
32	SRF	chr6:144416599-144416991	K562	blood:	n/a	n/a
33	EGR1	chr6:144416557-144417040	K562	blood:	n/a	chr6:144416956-144416980
34	CBX3	chr6:144416277-144417212	K562	blood:	n/a	n/a
35	IRF3	chr6:144416650-144416956	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:144416359-144417017	PANC-1	pancreas:	n/a	n/a
37	TBP	chr6:144416370-144417098	GM12878	blood:	n/a	n/a
38	ELK1	chr6:144416555-144417106	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:144416191-144417248	MCF10A-Er-Src	breast:	n/a	n/a
40	TAF1	chr6:144416372-144417195	ECC-1	luminal epithelium:	n/a	n/a
41	MYC	chr6:144416333-144417151	MCF-7	breast:	n/a	chr6:144416866-144416876
42	CEBPB	chr6:144416479-144417116	HepG2	liver:	n/a	n/a
43	RFX5	chr6:144416396-144416973	K562	blood:	n/a	n/a
44	SIX5	chr6:144416578-144417146	GM12878	blood:	n/a	n/a
45	POU2F2	chr6:144416401-144417157	GM12891	blood:	n/a	n/a
46	ELK4	chr6:144416491-144417097	Hela-S3	cervix:	n/a	chr6:144416803-144416814
47	GABPA	chr6:144416654-144417002	GM12878	blood:	n/a	chr6:144416809-144416816
48	MYC	chr6:144416513-144417025	K562	blood:	n/a	chr6:144416866-144416876
49	POLR2A	chr6:144416293-144417092	HepG2	liver:	n/a	n/a
50	ETS1	chr6:144416474-144417151	GM12878	blood:	n/a	chr6:144416807-144416822 chr6:144416810-144416827 chr6:144416810-144416827 chr6:144416804-144416815

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144416853-144416903	SAEC	small airway:	n/a
2	chr6:144416850-144416900	GM12892	blood:	n/a
3	chr6:144416853-144416903	GM12891	blood:	n/a
4	chr6:144416830-144416880	HRE	kidney:	n/a
5	chr6:144416853-144416903	LNCaP	prostate:	n/a
6	chr6:144416850-144416900	HMEC	breast:	n/a
7	chr6:144416850-144416900	GM12891	blood:	n/a
8	chr6:144416853-144416903	HEEpiC	esophagus:	n/a
9	chr6:144416830-144416880	CMK	blood:	n/a
10	chr6:144416850-144416900	PrEC	prostate:	n/a
11	chr6:144416853-144416903	HL-60	blood:	n/a
12	chr6:144416830-144416880	PrEC	prostate:	n/a
13	chr6:144416853-144416903	HNPCEpiC	eye:	n/a
14	chr6:144416830-144416880	NT2-D1	testis:	n/a
15	chr6:144416853-144416903	HCT-116	colon:	n/a
16	chr6:144416850-144416900	ECC-1	luminal epithelium:	n/a
17	chr6:144416853-144416903	Hela-S3	cervix:	n/a
18	chr6:144416830-144416880	AG04450	lung:	fetal
19	chr6:144416853-144416903	MCF10A-Er-Src	breast:	n/a
20	chr6:144416853-144416903	BE2_C	brain:	n/a
21	chr6:144416850-144416900	MCF-7	breast:	n/a
22	chr6:144416853-144416903	IMR90	lung:	fetal
23	chr6:144416853-144416903	AG09319	gingival:	n/a
24	chr6:144416850-144416900	GM06990	blood:	n/a
25	chr6:144416850-144416900	NHBE	bronchial:	n/a
26	chr6:144416850-144416900	T-47D	breast:	n/a
27	chr6:144416830-144416880	GM12891	blood:	n/a
28	chr6:144416853-144416903	A549	lung:	n/a
29	chr6:144416830-144416880	AoSMC	blood vessel:	n/a
30	chr6:144416850-144416900	HEEpiC	esophagus:	n/a
31	chr6:144416853-144416903	AG04450	lung:	fetal
32	chr6:144416853-144416903	CMK	blood:	n/a
33	chr6:144416830-144416880	HMEC	breast:	n/a
34	chr6:144416850-144416900	NHDF-neo	bronchial:	n/a
35	chr6:144416850-144416900	Jurkat	blood:	n/a
36	chr6:144416853-144416903	NHDF-neo	bronchial:	n/a
37	chr6:144416853-144416903	Jurkat	blood:	n/a
38	chr6:144416830-144416880	A549	lung:	n/a
39	chr6:144416830-144416880	SK-N-MC	brain:	n/a
40	chr6:144416850-144416900	IMR90	lung:	fetal
41	chr6:144416850-144416900	RPTEC	kidney:	n/a
42	chr6:144416853-144416903	HRE	kidney:	n/a
43	chr6:144416850-144416900	HEK293	kidney:	embryo
44	chr6:144416850-144416900	A549	lung:	n/a
45	chr6:144416853-144416903	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:144416830-144416880	HepG2	liver:	n/a
47	chr6:144416830-144416880	H1-hESC	embryonic stem cell:	embryo
48	chr6:144416853-144416903	SK-N-SH_RA	brain:	n/a
49	chr6:144416853-144416903	PANC-1	pancreas:	n/a
50	chr6:144416853-144416903	AG04449	skin:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144384404..144388265-chr6:144412934..144418087,11	K562	blood:
2	chr6:144384139..144386162-chr6:144415974..144418368,2	MCF-7	breast:
3	chr17:41150064..41150852-chr6:144416285..144416926,2	NB4	blood:
4	chr2:20550212..20550981-chr6:144416243..144417147,2	NB4	blood:
5	chr2:20646773..20647721-chr6:144416345..144416949,2	Hela-S3	cervix:
6	chr6:144382193..144387951-chr6:144413760..144419366,13	K562	blood:
7	chr6:143769046..143771743-chr6:144414666..144417027,2	K562	blood:
8	chr6:143998944..144000506-chr6:144415343..144418005,2	K562	blood:

No data

Variant related genes	Relation type
SF3B5	TF binding region
SF3B5	CpG island
ENSG00000118495	Chromatin interaction
ENSG00000112419	Chromatin interaction
ENSG00000223203	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000131469	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17073243	1.00[EUR][1000 genomes]
rs2273324	1.00[EUR][1000 genomes]
rs2876579	1.00[EUR][1000 genomes]
rs7773026	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886738	chr6:144387698-144428387	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144414800-144418000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:144415000-144417600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:144415200-144417600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:144415200-144417800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:144415400-144417200	Active TSS	HMEC	breast
6	chr6:144415400-144417400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:144415400-144417400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:144415400-144417600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:144415400-144417600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:144415400-144417800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:144415400-144417800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:144415400-144417800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:144415600-144417400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr6:144415600-144417400	Active TSS	Lung	lung
15	chr6:144415600-144417400	Active TSS	Pancreas	Pancrea
16	chr6:144415600-144417400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr6:144415600-144417600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:144415600-144417600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:144415600-144417600	Active TSS	Gastric	stomach
20	chr6:144415600-144417600	Active TSS	Ovary	ovary
21	chr6:144415600-144417600	Active TSS	Psoas Muscle	Psoas
22	chr6:144415600-144417800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr6:144415600-144417800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:144415600-144418200	Active TSS	Fetal Kidney	kidney
25	chr6:144415800-144417200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:144415800-144417200	Active TSS	Fetal Heart	heart
27	chr6:144415800-144417400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:144415800-144417400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:144415800-144417400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:144415800-144417400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:144415800-144417400	Active TSS	Esophagus	oesophagus
32	chr6:144415800-144417400	Active TSS	A549	lung
33	chr6:144415800-144417400	Active TSS	GM12878-XiMat	blood
34	chr6:144415800-144417400	Active TSS	K562	blood
35	chr6:144415800-144417400	Active TSS	NHEK	skin
36	chr6:144415800-144417600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:144415800-144417600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:144415800-144417600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:144415800-144417600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:144415800-144417600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:144415800-144417600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:144415800-144417600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:144415800-144417600	Active TSS	Stomach Mucosa	stomach
44	chr6:144415800-144417600	Active TSS	HSMM	muscle
45	chr6:144415800-144417600	Active TSS	NHDF-Ad	bronchial
46	chr6:144415800-144417800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:144415800-144417800	Active TSS	Fetal Intestine Large	intestine
48	chr6:144415800-144417800	Active TSS	Fetal Intestine Small	intestine
49	chr6:144415800-144417800	Active TSS	HSMMtube	muscle
50	chr6:144415800-144417800	Active TSS	NHLF	lung

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