Variant report

Variant	rs572709376
Chromosome Location	chr1:93251338-93251339
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	MAX	chr1:93249743-93251351	SK-N-SH	brain:	n/a	chr1:93251007-93251014
2	MAX	chr1:93250609-93251404	MCF-7	breast:	n/a	chr1:93251007-93251014
3	E2F6	chr1:93250299-93251456	A549	lung:	n/a	chr1:93250794-93250803 chr1:93250794-93250806 chr1:93250669-93250678
4	TCF12	chr1:93250224-93251346	A549	lung:	n/a	n/a
5	REST	chr1:93250105-93251414	H1-neurons	neurons:	n/a	chr1:93250258-93250271 chr1:93251006-93251020 chr1:93250264-93250277
6	POLR2A	chr1:93249695-93251340	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr1:93249224-93251459	K562	blood:	n/a	chr1:93250259-93250268
8	MAX	chr1:93250183-93251454	HCT-116	colon:	n/a	chr1:93251007-93251014
9	TFAP2C	chr1:93249855-93251344	Hela-S3	cervix:	n/a	chr1:93251059-93251074
10	ZNF384	chr1:93250200-93252334	K562	blood:	n/a	n/a
11	MAX	chr1:93249743-93251347	Hela-S3	cervix:	n/a	chr1:93251007-93251014
12	SIN3AK20	chr1:93250247-93251350	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:93250123-93251356	HepG2	liver:	n/a	n/a
14	MAZ	chr1:93249392-93251342	IMR90	lung:	n/a	chr1:93249464-93249473 chr1:93251007-93251014
15	E2F6	chr1:93249984-93251418	K562	blood:	n/a	chr1:93250244-93250254 chr1:93250794-93250803 chr1:93250794-93250806 chr1:93250192-93250202 chr1:93250669-93250678 chr1:93250195-93250205
16	MYC	chr1:93249748-93251356	K562	blood:	n/a	chr1:93251007-93251014
17	TEAD4	chr1:93250637-93251406	K562	blood:	n/a	n/a
18	TEAD4	chr1:93250314-93251383	K562	blood:	n/a	n/a
19	CBX3	chr1:93250437-93251385	K562	blood:	n/a	n/a
20	MXI1	chr1:93249452-93251597	SK-N-SH	brain:	n/a	n/a
21	MAX	chr1:93250004-93251401	HepG2	liver:	n/a	chr1:93251007-93251014
22	MYC	chr1:93249700-93251429	A549	lung:	n/a	chr1:93251007-93251014
23	CREB1	chr1:93250271-93251355	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:93249896-93251359	NB4	blood:	n/a	chr1:93251007-93251014
25	E2F6	chr1:93250273-93251529	H1-hESC	embryonic stem cell:	n/a	chr1:93250794-93250803 chr1:93250794-93250806 chr1:93250669-93250678
26	MAX	chr1:93250198-93251432	H1-hESC	embryonic stem cell:	n/a	chr1:93251007-93251014
27	POLR2A	chr1:93250089-93251414	HUVEC	blood vessel:	n/a	n/a
28	MTA3	chr1:93250301-93251344	GM12878	blood:	n/a	n/a
29	MAX	chr1:93249941-93251539	A549	lung:	n/a	chr1:93251007-93251014
30	NR2F2	chr1:93250311-93251416	K562	blood:	n/a	n/a
31	MAX	chr1:93250116-93251450	ECC-1	luminal epithelium:	n/a	chr1:93251007-93251014
32	E2F6	chr1:93250434-93251354	H1-hESC	embryonic stem cell:	n/a	chr1:93250794-93250803 chr1:93250794-93250806 chr1:93250669-93250678
33	MAX	chr1:93250104-93251415	HepG2	liver:	n/a	chr1:93251007-93251014
34	MAX	chr1:93250491-93251446	A549	lung:	n/a	chr1:93251007-93251014
35	CREB1	chr1:93250328-93251352	HepG2	liver:	n/a	n/a
36	MAX	chr1:93250113-93251342	K562	blood:	n/a	chr1:93251007-93251014
37	MAX	chr1:93250063-93251376	H1-hESC	embryonic stem cell:	n/a	chr1:93251007-93251014
38	CHD1	chr1:93249145-93251508	IMR90	lung:	n/a	n/a
39	MXI1	chr1:93249301-93251436	IMR90	lung:	n/a	n/a
40	MAX	chr1:93249704-93251458	HCT-116	colon:	n/a	chr1:93251007-93251014
41	POLR2A	chr1:93250298-93251411	SK-N-MC	brain:	n/a	n/a
42	MAX	chr1:93250040-93251433	ECC-1	luminal epithelium:	n/a	chr1:93251007-93251014

No.	Distal block	Cell Line	Cell type
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93213561..93216239-chr1:93249509..93251766,2	K562	blood:
3	chr1:93250896..93252693-chr1:93297527..93299113,2	MCF-7	breast:
4	chr1:93250918..93254010-chr1:93306747..93309482,3	K562	blood:
5	chr1:93251113..93254538-chr1:93261545..93264232,3	K562	blood:
6	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
7	chr1:93249660..93252667-chr1:93296431..93299077,5	K562	blood:
8	chr1:93250688..93252404-chr1:93256005..93257637,2	MCF-7	breast:
9	chr1:93251020..93253744-chr1:93303793..93305482,2	K562	blood:
10	chr1:93250962..93252670-chr1:93458393..93461376,2	K562	blood:
11	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
12	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

Variant related genes	Relation type
EVI5	TF binding region
ENSG00000234202	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000122406	Chromatin interaction
ENSG00000223896	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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv3379601	chr1:93249189-93251737	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93247800-93252000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:93248000-93251800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:93248600-93251400	Active TSS	Right Ventricle	heart
4	chr1:93248600-93251600	Active TSS	NHLF	lung
5	chr1:93249000-93251400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:93249000-93251400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:93249000-93251400	Active TSS	Aorta	Aorta
8	chr1:93249000-93251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:93249000-93251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:93249000-93251600	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:93249000-93251800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:93249200-93251400	Active TSS	Colon Smooth Muscle	Colon
13	chr1:93249200-93251400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:93249200-93251400	Active TSS	Fetal Kidney	kidney
15	chr1:93249200-93251400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:93249200-93251400	Active TSS	Fetal Stomach	stomach
17	chr1:93249200-93251400	Active TSS	Left Ventricle	heart
18	chr1:93249200-93251400	Active TSS	Pancreas	Pancrea
19	chr1:93249200-93251400	Active TSS	A549	lung
20	chr1:93249200-93251400	Active TSS	NH-A	brain
21	chr1:93249200-93251600	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:93249200-93251600	Active TSS	Osteobl	bone
23	chr1:93249400-93251400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:93249400-93251400	Active TSS	Brain Substantia Nigra	brain
25	chr1:93249400-93251400	Active TSS	Fetal Lung	lung
26	chr1:93249400-93251400	Active TSS	Ovary	ovary
27	chr1:93249400-93251400	Active TSS	Psoas Muscle	Psoas
28	chr1:93249400-93251400	Active TSS	Stomach Mucosa	stomach
29	chr1:93249400-93251400	Active TSS	HSMMtube	muscle
30	chr1:93249400-93251400	Active TSS	NHDF-Ad	bronchial
31	chr1:93249400-93251600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:93249600-93251400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:93249800-93251400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr1:93249800-93251400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr1:93249800-93251400	Active TSS	Esophagus	oesophagus
36	chr1:93249800-93251600	Active TSS	Brain Anterior Caudate	brain
37	chr1:93250000-93251400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:93250000-93251400	Active TSS	Liver	Liver
39	chr1:93250000-93251400	Active TSS	Brain Cingulate Gyrus	brain
40	chr1:93250000-93251400	Active TSS	Brain Germinal Matrix	brain
41	chr1:93250000-93251600	Active TSS	Brain Hippocampus Middle	brain
42	chr1:93250000-93251600	Active TSS	Colonic Mucosa	Colon
43	chr1:93250000-93251600	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:93250000-93251600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:93250000-93251600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:93250200-93251400	Active TSS	Fetal Brain Female	brain
47	chr1:93250200-93256800	Weak transcription	Fetal Heart	heart
48	chr1:93250600-93251600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:93250800-93251400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:93250800-93251400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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