Variant report

Variant	rs28384442
Chromosome Location	chr6:14117447-14117448
allele	A/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	WRNIP1	chr6:14117442-14117659	GM12878	blood:	n/a	n/a
2	MXI1	chr6:14117428-14118277	Hela-S3	cervix:	n/a	chr6:14117460-14117475
3	POLR2A	chr6:14117368-14118375	Hela-S3	cervix:	n/a	n/a
4	HA-E2F1	chr6:14117342-14118877	MCF-7	breast:	n/a	chr6:14117894-14117908 chr6:14117479-14117486 chr6:14117983-14117993
5	POLR2A	chr6:14117445-14118178	HCT-116	colon:	n/a	n/a
6	POLR2A	chr6:14117418-14121395	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:14117378-14117820	GM12878	blood:	n/a	n/a
8	MTA3	chr6:14117342-14119073	GM12878	blood:	n/a	n/a
9	MAX	chr6:14117376-14118407	K562	blood:	n/a	chr6:14117460-14117469
10	ELF1	chr6:14117416-14118574	GM12878	blood:	n/a	n/a
11	MAFK	chr6:14117446-14117470	K562	blood:	n/a	n/a
12	E2F4	chr6:14117252-14118167	MCF10A-Er-Src	breast:	n/a	chr6:14117894-14117908 chr6:14117479-14117486 chr6:14117983-14117993
13	CREB1	chr6:14117344-14118391	K562	blood:	n/a	n/a
14	ZNF143	chr6:14117366-14118297	Hela-S3	cervix:	n/a	chr6:14117987-14117997
15	POLR2A	chr6:14117306-14118413	SK-N-MC	brain:	n/a	n/a
16	ZBTB7A	chr6:14117447-14118271	K562	blood:	n/a	n/a
17	SMC3	chr6:14117396-14118443	Hela-S3	cervix:	n/a	chr6:14118390-14118400
18	TCF12	chr6:14117429-14117786	ECC-1	luminal epithelium:	n/a	n/a
19	GATA1	chr6:14117290-14117741	PBDE	blood:	n/a	n/a
20	UBTF	chr6:14117441-14117828	K562	blood:	n/a	n/a
21	POLR2A	chr6:14117362-14118197	MCF10A-Er-Src	breast:	n/a	n/a
22	RCOR1	chr6:14117366-14117779	K562	blood:	n/a	n/a
23	ZNF143	chr6:14117400-14117769	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBL1XR1	chr6:14117362-14117644	K562	blood:	n/a	n/a
25	CREB1	chr6:14117385-14118440	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr6:14117398-14117655	K562	blood:	n/a	n/a
27	RCOR1	chr6:14116995-14117673	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:14117343-14119484	Raji	blood:	n/a	n/a
29	POLR2A	chr6:14117436-14117774	SK-N-MC	brain:	n/a	n/a
30	TBP	chr6:14117396-14118367	GM12878	blood:	n/a	n/a
31	MXI1	chr6:14117439-14117668	H1-hESC	embryonic stem cell:	n/a	chr6:14117460-14117475
32	HEY1	chr6:14117433-14117817	K562	blood:	n/a	n/a
33	TEAD4	chr6:14117310-14118448	K562	blood:	n/a	n/a
34	SIN3AK20	chr6:14117443-14118261	K562	blood:	n/a	n/a
35	POLR2A	chr6:14117439-14127083	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:14117403-14118419	HL-60	blood:	n/a	n/a
37	MYC	chr6:14117431-14117904	K562	blood:	n/a	chr6:14117460-14117469
38	POLR2A	chr6:14117369-14123326	GM12878	blood:	n/a	n/a
39	CREB1	chr6:14117390-14118423	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:14117408-14140294	GM12891	blood:	n/a	n/a
41	CCNT2	chr6:14117408-14118294	K562	blood:	n/a	chr6:14118114-14118123
42	POLR2A	chr6:14117442-14117826	HL-60	blood:	n/a	n/a
43	EP300	chr6:14117253-14117485	K562	blood:	n/a	chr6:14117383-14117391
44	SMARCB1	chr6:14117421-14118622	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr6:14117422-14117777	K562	blood:	n/a	n/a
46	RCOR1	chr6:14117406-14117662	HepG2	liver:	n/a	n/a
47	SIN3A	chr6:14117403-14118559	H1-hESC	embryonic stem cell:	n/a	n/a
48	PML	chr6:14117353-14117678	K562	blood:	n/a	n/a
49	MYC	chr6:14117268-14118175	MCF10A-Er-Src	breast:	n/a	chr6:14117460-14117469
50	PML	chr6:14117348-14119183	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CD83	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13197082	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13205148	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13208593	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2010219	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34028524	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34228221	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35118414	0.87[ASN][1000 genomes]
rs35293970	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35360116	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3734666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58108489	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59407943	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59545453	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61391899	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6933861	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71562496	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71562497	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71562498	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71562501	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71562502	0.83[EUR][1000 genomes]
rs71564303	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9476497	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9476498	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9476499	0.80[EUR][1000 genomes];0.82[ASN][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	nsv1027179	chr6:14058703-14223055	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr6:14117000-14118000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:14117000-14118400	Active TSS	Fetal Lung	lung
3	chr6:14117000-14118400	Active TSS	K562	blood
4	chr6:14117000-14118600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:14117000-14119000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:14117200-14117600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:14117200-14117600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr6:14117200-14117600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:14117200-14117600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:14117200-14117600	Flanking Active TSS	GM12878-XiMat	blood
11	chr6:14117200-14117600	Flanking Active TSS	Hela-S3	cervix
12	chr6:14117200-14118000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:14117200-14118000	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:14117200-14118000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:14117200-14118200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:14117200-14118200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:14117200-14118200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:14117200-14118200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:14117200-14118200	Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:14117200-14118200	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr6:14117200-14118200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:14117200-14118200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:14117200-14118200	Active TSS	Adipose Nuclei	Adipose
24	chr6:14117200-14118200	Active TSS	Stomach Smooth Muscle	stomach
25	chr6:14117200-14118200	Bivalent/Poised TSS	HepG2	liver
26	chr6:14117200-14118200	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:14117200-14118200	Active TSS	NHDF-Ad	bronchial
28	chr6:14117200-14118200	Active TSS	NHEK	skin
29	chr6:14117200-14118400	Active TSS	Primary T cells from cord blood	blood
30	chr6:14117200-14118400	Active TSS	A549	lung
31	chr6:14117200-14118600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:14117200-14118600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:14117200-14118600	Active TSS	Fetal Kidney	kidney
34	chr6:14117200-14118600	Active TSS	NHLF	lung
35	chr6:14117200-14118800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:14117200-14118800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:14117200-14119000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:14117200-14119000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:14117400-14117600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:14117400-14117600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:14117400-14117600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:14117400-14117600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:14117400-14117600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:14117400-14117600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr6:14117400-14117600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr6:14117400-14117600	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr6:14117400-14117600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:14117400-14117600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:14117400-14117600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:14117400-14117600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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