Variant report

Variant	rs186323394
Chromosome Location	chr6:150182526-150182527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:150182359-150182797	A549	lung:	n/a	chr6:150182362-150182372
2	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
3	ARID3A	chr6:150181723-150182947	HepG2	liver:	n/a	n/a
4	RAD21	chr6:150181788-150182849	HepG2	liver:	n/a	chr6:150182362-150182372
5	CEBPB	chr6:150181851-150183198	HepG2	liver:	n/a	chr6:150182705-150182716
6	BHLHE40	chr6:150181795-150182660	HepG2	liver:	n/a	n/a
7	HDAC2	chr6:150182451-150182900	HepG2	liver:	n/a	n/a
8	MAX	chr6:150181835-150182719	HepG2	liver:	n/a	n/a
9	HEY1	chr6:150181758-150182655	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:150182461-150182944	MCF-7	breast:	n/a	chr6:150182705-150182716
11	CEBPB	chr6:150182466-150182956	MCF-7	breast:	n/a	chr6:150182705-150182716
12	RAD21	chr6:150182428-150182872	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:150182500-150182650	HAc	cerebellar:	n/a	n/a
14	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
15	CTCF	chr6:150182520-150182670	HCM	heart:	n/a	n/a
16	CTCF	chr6:150182480-150182630	HEEpiC	esophagus:	n/a	n/a
17	RFX5	chr6:150181941-150182551	HepG2	liver:	n/a	n/a
18	RAD21	chr6:150182472-150182811	SK-N-SH_RA	brain:	n/a	n/a
19	RAD21	chr6:150182461-150182820	ECC-1	luminal epithelium:	n/a	n/a
20	SMC3	chr6:150181764-150182852	HepG2	liver:	n/a	n/a
21	CTCF	chr6:150182500-150182650	GM06990	blood:	n/a	n/a
22	RAD21	chr6:150182415-150182990	HCT-116	colon:	n/a	n/a
23	POLR2A	chr6:150182258-150182968	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr6:150182520-150182670	NHLF	lung:	n/a	n/a
25	TEAD4	chr6:150181746-150183001	HepG2	liver:	n/a	n/a
26	CEBPD	chr6:150182483-150182934	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:150181143-150183681	HepG2	liver:	n/a	n/a
28	NFIC	chr6:150181856-150182641	HepG2	liver:	n/a	n/a
29	CTCF	chr6:150182520-150182670	GM12872	blood:	n/a	n/a
30	CEBPB	chr6:150182469-150182917	HepG2	liver:	n/a	chr6:150182705-150182716
31	NFIC	chr6:150181704-150182842	HepG2	liver:	n/a	n/a
32	CEBPB	chr6:150182407-150182968	A549	lung:	n/a	chr6:150182705-150182716
33	RAD21	chr6:150182519-150182821	A549	lung:	n/a	n/a
34	MBD4	chr6:150181756-150182814	HepG2	liver:	n/a	n/a
35	POLR2A	chr6:150181713-150182926	PANC-1	pancreas:	n/a	n/a
36	CEBPB	chr6:150182485-150183266	IMR90	lung:	n/a	chr6:150182705-150182716
37	MBD4	chr6:150181734-150182736	HepG2	liver:	n/a	n/a
38	RAD21	chr6:150182370-150182749	A549	lung:	n/a	n/a
39	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr6:150182520-150182670	AG04450	lung:	n/a	n/a
41	CTCF	chr6:150182453-150182816	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:150180156-150183754	HepG2	liver:	n/a	n/a
43	FOXA2	chr6:150180364-150182588	HepG2	liver:	n/a	n/a
44	CTCF	chr6:150182520-150182670	RPTEC	kidney:	n/a	n/a
45	RAD21	chr6:150182450-150182834	HepG2	liver:	n/a	n/a
46	CTCF	chr6:150182500-150182650	BE2_C	brain:	n/a	n/a
47	RAD21	chr6:150182458-150182949	IMR90	lung:	n/a	n/a
48	MYBL2	chr6:150181690-150183025	HepG2	liver:	n/a	n/a
49	MXI1	chr6:150181661-150182841	HepG2	liver:	n/a	n/a
50	EP300	chr6:150181584-150182809	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
2	chr6:150161791..150162424-chr6:150182291..150183108,3	MCF-7	breast:
3	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
4	chr6:150155308..150156178-chr6:150182507..150183228,2	MCF-7	breast:
5	chr6:150180705..150183477-chr6:150200209..150201991,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000131023	Chromatin interaction
ENSG00000203722	Chromatin interaction
ENSG00000217733	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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150155800-150182600	Weak transcription	Dnd41	blood
2	chr6:150168800-150182600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:150168800-150183400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:150169200-150183000	Weak transcription	Brain Substantia Nigra	brain
5	chr6:150169400-150183200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
7	chr6:150173200-150183200	Weak transcription	Ovary	ovary
8	chr6:150174200-150182600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:150176200-150183200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:150176600-150183200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:150176600-150183400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:150176800-150183400	Weak transcription	HSMMtube	muscle
13	chr6:150177200-150183000	Weak transcription	Fetal Kidney	kidney
14	chr6:150177600-150183000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:150177600-150183200	Weak transcription	Fetal Lung	lung
16	chr6:150178000-150183200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:150178000-150183200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
19	chr6:150178800-150183400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:150179000-150183200	Weak transcription	HSMM	muscle
21	chr6:150179600-150183200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr6:150180200-150183400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:150180600-150182800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:150180600-150183200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:150180600-150183600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:150180600-150183600	Enhancers	Gastric	stomach
27	chr6:150180600-150184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:150180800-150183200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:150181200-150182800	Enhancers	Right Ventricle	heart
30	chr6:150181200-150183000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:150181200-150183600	Enhancers	Esophagus	oesophagus
32	chr6:150181200-150183800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:150181200-150183800	Enhancers	Placenta	Placenta
34	chr6:150181200-150183800	Enhancers	Pancreas	Pancrea
35	chr6:150181200-150183800	Flanking Active TSS	Hela-S3	cervix
36	chr6:150181200-150184000	Enhancers	Liver	Liver
37	chr6:150181400-150183000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:150181400-150183400	Enhancers	HMEC	breast
39	chr6:150181600-150183000	Flanking Active TSS	A549	lung
40	chr6:150181600-150183200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:150181600-150183400	Strong transcription	Fetal Stomach	stomach
42	chr6:150181800-150182600	Genic enhancers	Fetal Brain Female	brain
43	chr6:150181800-150182600	Genic enhancers	NHEK	skin
44	chr6:150181800-150183000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:150181800-150183200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr6:150181800-150183200	Enhancers	Brain Hippocampus Middle	brain
47	chr6:150181800-150183800	Enhancers	Adipose Nuclei	Adipose
48	chr6:150181800-150183800	Enhancers	Brain Germinal Matrix	brain
49	chr6:150182000-150182600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr6:150182000-150182800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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