Variant report

Variant	rs548814097
Chromosome Location	chr2:234264269-234264270
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:234264040-234264575	T-47D	breast:	n/a	n/a
2	POLR2A	chr2:234263905-234266140	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:234263828-234264767	SK-N-MC	brain:	n/a	n/a
4	GATA3	chr2:234264140-234264467	T-47D	breast:	n/a	n/a
5	POLR2A	chr2:234263694-234264275	MCF-7	breast:	n/a	n/a
6	BCL3	chr2:234263832-234264395	A549	lung:	n/a	n/a
7	MAX	chr2:234263579-234264404	A549	lung:	n/a	n/a
8	ZEB1	chr2:234263853-234264345	GM12878	blood:	n/a	chr2:234264056-234264065 chr2:234264057-234264064
9	ELF1	chr2:234263898-234264310	GM12878	blood:	n/a	n/a
10	MAX	chr2:234263840-234264307	MCF-7	breast:	n/a	n/a
11	MXI1	chr2:234264149-234264335	GM12878	blood:	n/a	n/a
12	ZNF263	chr2:234263654-234264339	HEK293-T-REx	kidney:	n/a	chr2:234263831-234263852
13	POLR2A	chr2:234263900-234264537	HepG2	liver:	n/a	n/a
14	TCF12	chr2:234263977-234264269	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
2	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
3	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
4	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
5	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
6	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
7	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
8	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
9	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
10	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000130561	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000201013	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
2	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:234262800-234264400	Active TSS	NHDF-Ad	bronchial
6	chr2:234262800-234264400	Active TSS	NHLF	lung
7	chr2:234262800-234264600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:234262800-234264800	Active TSS	HSMM	muscle
9	chr2:234262800-234264800	Active TSS	HSMMtube	muscle
10	chr2:234263000-234264600	Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:234263200-234264600	Active TSS	Small Intestine	intestine
12	chr2:234263600-234264400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:234263600-234264400	Flanking Active TSS	Psoas Muscle	Psoas
14	chr2:234263600-234264400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr2:234263600-234264600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:234263600-234264600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:234263600-234264800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:234263600-234264800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr2:234263600-234265000	Flanking Active TSS	Placenta	Placenta
20	chr2:234263600-234265200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:234263800-234264400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:234263800-234264400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr2:234263800-234264400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:234263800-234264400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:234263800-234264400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:234263800-234264400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:234263800-234264400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:234263800-234264400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:234263800-234264400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:234263800-234264400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:234263800-234264400	Flanking Active TSS	Liver	Liver
32	chr2:234263800-234264400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr2:234263800-234264400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr2:234263800-234264400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:234263800-234264400	Flanking Active TSS	HMEC	breast
36	chr2:234263800-234264400	Flanking Active TSS	HUVEC	blood vessel
37	chr2:234263800-234264400	Flanking Active TSS	NH-A	brain
38	chr2:234263800-234264400	Flanking Active TSS	Osteobl	bone
39	chr2:234263800-234264600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:234263800-234264600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:234263800-234264600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:234263800-234264600	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:234263800-234264600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:234263800-234264600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:234263800-234264600	Flanking Active TSS	Fetal Brain Male	brain
46	chr2:234263800-234264600	Flanking Active TSS	Fetal Heart	heart
47	chr2:234263800-234264600	Flanking Active TSS	Fetal Stomach	stomach
48	chr2:234263800-234264600	Flanking Active TSS	Fetal Thymus	thymus
49	chr2:234263800-234264800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr2:234263800-234264800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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