Variant report

Variant	rs62415916
Chromosome Location	chr6:114293063-114293064
allele	A/G
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	MYC	chr6:114292155-114293201	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
2	POLR2A	chr6:114291184-114293261	NB4	blood:	n/a	n/a
3	SREBP1	chr6:114291933-114293393	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:114291286-114293296	K562	blood:	n/a	n/a
5	CTCF	chr6:114293040-114293190	NHEK	skin:	n/a	n/a
6	HCFC1	chr6:114291908-114293348	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr6:114291350-114293263	K562	blood:	n/a	chr6:114291662-114291677 chr6:114292668-114292679 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
8	TBP	chr6:114292156-114293318	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr6:114291026-114293265	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
10	JUND	chr6:114291207-114293363	GM12878	blood:	n/a	n/a
11	NR2F2	chr6:114292304-114293248	K562	blood:	n/a	n/a
12	MYC	chr6:114291343-114293215	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
13	MAX	chr6:114291343-114293091	HCT-116	colon:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
14	POLR2A	chr6:114291420-114293131	PFSK-1	brain:	n/a	n/a
15	MXI1	chr6:114292092-114293107	Hela-S3	cervix:	n/a	n/a
16	MAX	chr6:114290936-114293143	HCT-116	colon:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
17	MYC	chr6:114292459-114293385	MCF10A-Er-Src	breast:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
18	POLR2A	chr6:114289810-114293244	K562	blood:	n/a	n/a
19	RCOR1	chr6:114292060-114293231	K562	blood:	n/a	n/a
20	ZC3H11A	chr6:114292868-114293115	K562	blood:	n/a	n/a
21	MYC	chr6:114291293-114293381	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
22	MYC	chr6:114291082-114293225	NB4	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
23	E2F6	chr6:114291935-114293099	A549	lung:	n/a	chr6:114292668-114292679
24	POLR2A	chr6:114291043-114293829	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:114290931-114293362	K562	blood:	n/a	n/a
26	MTA3	chr6:114290875-114293138	GM12878	blood:	n/a	n/a
27	ARID3A	chr6:114292324-114293464	K562	blood:	n/a	n/a
28	ZMIZ1	chr6:114291203-114293206	K562	blood:	n/a	n/a
29	MAX	chr6:114292458-114293200	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
30	GTF2F1	chr6:114292158-114293312	Hela-S3	cervix:	n/a	n/a
31	JUN	chr6:114292078-114293223	K562	blood:	n/a	n/a
32	JUND	chr6:114291063-114293399	SK-N-SH	brain:	n/a	n/a
33	MAX	chr6:114290983-114293289	NB4	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
34	E2F6	chr6:114291533-114293135	H1-hESC	embryonic stem cell:	n/a	chr6:114291662-114291677 chr6:114292668-114292679 chr6:114291661-114291673 chr6:114291836-114291846 chr6:114291816-114291828
35	IRF1	chr6:114292124-114293160	K562	blood:	n/a	n/a
36	MAX	chr6:114291913-114293332	Hela-S3	cervix:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
37	MAZ	chr6:114290894-114293087	GM12878	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
38	MYC	chr6:114292041-114293120	A549	lung:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
39	ZNF274	chr6:114292573-114293313	K562	blood:	n/a	n/a
40	MYC	chr6:114292166-114293295	MCF10A-Er-Src	breast:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
41	POLR2A	chr6:114291713-114293567	MCF10A-Er-Src	breast:	n/a	n/a
42	REST	chr6:114289630-114293132	H1-neurons	neurons:	n/a	chr6:114290000-114290007 chr6:114292508-114292528
43	EP300	chr6:114292249-114293215	GM12878	blood:	n/a	n/a
44	MYC	chr6:114291154-114293292	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694
45	MXI1	chr6:114288995-114293464	SK-N-SH	brain:	n/a	n/a
46	E2F6	chr6:114292442-114293080	K562	blood:	n/a	chr6:114292668-114292679
47	POLR2A	chr6:114291023-114293341	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr6:114290941-114293232	GM12891	blood:	n/a	n/a
49	CHD1	chr6:114289753-114293197	IMR90	lung:	n/a	n/a
50	MAX	chr6:114291782-114293224	K562	blood:	n/a	chr6:114292685-114292695 chr6:114292686-114292695 chr6:114292685-114292696 chr6:114292686-114292695 chr6:114292685-114292694 chr6:114292687-114292694

No.	Distal block	Cell Line	Cell type
1	chr6:114287867..114290622-chr6:114290692..114293112,2	MCF-7	breast:
2	chr12:49656786..49659396-chr6:114291007..114293085,2	MCF-7	breast:
3	chr5:60627777..60628559-chr6:114292385..114293123,2	Hela-S3	cervix:

Variant related genes	Relation type
HDAC2	TF binding region
ENSG00000130449	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000196591	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17792118	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2169506	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35598148	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62415904	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62415906	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62415909	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415914	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415915	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62415923	0.88[ASN][1000 genomes]
rs73548638	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7744487	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7748936	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9488293	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9488294	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114288000-114293400	Active TSS	GM12878-XiMat	blood
2	chr6:114289600-114293200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:114289800-114293200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:114289800-114293200	Active TSS	HSMMtube	muscle
5	chr6:114290000-114293200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:114290000-114293200	Active TSS	Right Ventricle	heart
7	chr6:114290200-114293200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:114290200-114293200	Active TSS	Fetal Muscle Trunk	muscle
9	chr6:114290200-114293200	Active TSS	Ovary	ovary
10	chr6:114290200-114293200	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:114290200-114293200	Active TSS	HSMM	muscle
12	chr6:114290400-114293200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:114290400-114293200	Active TSS	Fetal Brain Female	brain
14	chr6:114290400-114293200	Active TSS	NHDF-Ad	bronchial
15	chr6:114290400-114293400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:114290400-114293400	Active TSS	HMEC	breast
17	chr6:114290600-114293200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:114290600-114293400	Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:114290600-114293400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:114290600-114293600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:114290800-114293200	Active TSS	Brain Anterior Caudate	brain
22	chr6:114290800-114293400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr6:114291000-114293200	Active TSS	Colonic Mucosa	Colon
24	chr6:114291200-114293200	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:114291200-114293200	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:114291200-114293200	Active TSS	Brain Substantia Nigra	brain
27	chr6:114291200-114293400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr6:114291400-114293400	Active TSS	Rectal Smooth Muscle	rectum
29	chr6:114292400-114293200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:114292400-114293200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:114292400-114293200	Active TSS	Fetal Brain Male	brain
32	chr6:114292600-114293200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr6:114292600-114293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:114292600-114293200	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr6:114292600-114293400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr6:114292600-114293400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:114292600-114293400	Flanking Active TSS	Dnd41	blood
38	chr6:114292800-114293200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:114292800-114293200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:114292800-114293200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr6:114292800-114293200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:114292800-114293200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr6:114292800-114293200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:114292800-114293200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:114292800-114293200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr6:114292800-114293200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:114292800-114293200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:114292800-114293200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr6:114292800-114293200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr6:114292800-114293200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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