Variant report

Variant	rs537292852
Chromosome Location	chr3:53528488-53528489
allele	A/C
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	REST	chr3:53527714-53528699	H1-neurons	neurons:	n/a	n/a
2	MYC	chr3:53528093-53528548	MCF-7	breast:	n/a	n/a
3	E2F6	chr3:53527632-53528771	H1-hESC	embryonic stem cell:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53527887-53527896 chr3:53528093-53528103
4	ZBTB7A	chr3:53527742-53528581	ECC-1	luminal epithelium:	n/a	chr3:53528091-53528100
5	MAX	chr3:53527965-53528914	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr3:53528007-53528862	ECC-1	luminal epithelium:	n/a	n/a
7	SIN3AK20	chr3:53528182-53528701	PANC-1	pancreas:	n/a	n/a
8	ZBTB7A	chr3:53527826-53528564	ECC-1	luminal epithelium:	n/a	chr3:53528091-53528100
9	HA-E2F1	chr3:53528050-53528548	MCF-7	breast:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53528093-53528103
10	POLR2A	chr3:53528163-53528883	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr3:53528176-53528557	H1-neurons	neurons:	n/a	n/a
12	YY1	chr3:53528165-53528576	HepG2	liver:	n/a	chr3:53528198-53528207 chr3:53528195-53528209 chr3:53528241-53528255
13	MAX	chr3:53527670-53528552	H1-hESC	embryonic stem cell:	n/a	chr3:53527885-53527895 chr3:53527882-53527891
14	POLR2A	chr3:53528401-53528786	A549	lung:	n/a	n/a
15	POLR2A	chr3:53528388-53528767	A549	lung:	n/a	n/a
16	MAX	chr3:53527931-53528599	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr3:53527966-53528797	MCF-7	breast:	n/a	n/a
18	POLR2A	chr3:53527921-53528865	MCF-7	breast:	n/a	n/a
19	MAX	chr3:53528182-53528866	A549	lung:	n/a	n/a
20	CREB1	chr3:53528231-53528544	A549	lung:	n/a	n/a
21	ZNF143	chr3:53528028-53528563	H1-hESC	embryonic stem cell:	n/a	chr3:53528250-53528260 chr3:53528185-53528203
22	E2F6	chr3:53527760-53528864	H1-hESC	embryonic stem cell:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53527887-53527896 chr3:53528093-53528103
23	MAX	chr3:53527740-53528884	H1-hESC	embryonic stem cell:	n/a	chr3:53527885-53527895 chr3:53527882-53527891
24	MAX	chr3:53527992-53528892	HepG2	liver:	n/a	n/a
25	ZEB1	chr3:53527645-53528589	HepG2	liver:	n/a	n/a
26	MAX	chr3:53528178-53528869	A549	lung:	n/a	n/a
27	POLR2A	chr3:53528067-53528809	A549	lung:	n/a	n/a
28	POLR2A	chr3:53528379-53528556	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53525897..53528498-chr3:53700129..53702578,2	MCF-7	breast:
2	chr3:53526182..53528875-chr3:53879796..53881358,2	MCF-7	breast:

Variant related genes	Relation type
CACNA1D	TF binding region
ENSG00000016391	Chromatin interaction
ENSG00000056736	Chromatin interaction
ENSG00000157388	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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv3442278	chr3:53527437-53530285	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3444874	chr3:53527737-53529960	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53527000-53530600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:53527200-53529200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr3:53527200-53529200	Active TSS	Duodenum Mucosa	Duodenum
4	chr3:53527200-53529200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr3:53527400-53529200	Active TSS	Fetal Intestine Large	intestine
6	chr3:53527400-53530200	Active TSS	Brain Hippocampus Middle	brain
7	chr3:53527400-53530400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:53527400-53530400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr3:53527400-53531000	Active TSS	Brain Cingulate Gyrus	brain
10	chr3:53527600-53529000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:53527600-53529200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr3:53527600-53529200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr3:53527600-53529200	Active TSS	Rectal Smooth Muscle	rectum
14	chr3:53527600-53529400	Active TSS	Fetal Brain Female	brain
15	chr3:53527600-53529800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr3:53527600-53530000	Active TSS	Brain Anterior Caudate	brain
17	chr3:53527600-53533000	Enhancers	Fetal Brain Male	brain
18	chr3:53527800-53528600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:53527800-53528600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr3:53527800-53528600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:53527800-53529000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:53527800-53529000	Active TSS	HepG2	liver
23	chr3:53527800-53529200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr3:53527800-53529200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:53527800-53529200	Active TSS	Pancreas	Pancrea
26	chr3:53527800-53529200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr3:53527800-53529200	Active TSS	Right Atrium	heart
28	chr3:53527800-53529200	Active TSS	A549	lung
29	chr3:53527800-53530000	Active TSS	Aorta	Aorta
30	chr3:53527800-53530000	Active TSS	Fetal Lung	lung
31	chr3:53527800-53530200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:53527800-53530200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr3:53527800-53530200	Active TSS	Colon Smooth Muscle	Colon
34	chr3:53527800-53530400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr3:53527800-53530400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr3:53527800-53530400	Active TSS	Fetal Kidney	kidney
37	chr3:53527800-53530600	Active TSS	Brain Angular Gyrus	brain
38	chr3:53527800-53530800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:53528000-53528600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:53528000-53528600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:53528000-53528600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr3:53528000-53528600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:53528000-53528600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
44	chr3:53528000-53528600	Active TSS	Gastric	stomach
45	chr3:53528000-53528600	Active TSS	Lung	lung
46	chr3:53528000-53528600	Enhancers	Spleen	Spleen
47	chr3:53528000-53528600	Bivalent/Poised TSS	HSMM	muscle
48	chr3:53528000-53528800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:53528000-53529000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:53528000-53529000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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