Variant report

Variant	rs548319813
Chromosome Location	chr1:228327191-228327192
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	POLR2A	chr1:228327107-228328712	Raji	blood:	n/a	n/a
2	YY1	chr1:228327091-228328654	K562	blood:	n/a	chr1:228328107-228328118 chr1:228328361-228328375 chr1:228327692-228327706 chr1:228327701-228327712 chr1:228328109-228328123 chr1:228327698-228327712
3	POLR2A	chr1:228327150-228328561	PFSK-1	brain:	n/a	n/a
4	JUN	chr1:228327040-228329256	K562	blood:	n/a	chr1:228327920-228327933
5	POLR2A	chr1:228327060-228329092	K562	blood:	n/a	n/a
6	CREB1	chr1:228327165-228328483	HepG2	liver:	n/a	chr1:228327618-228327631
7	POLR2A	chr1:228327136-228328523	U87	brain:	n/a	n/a
8	PML	chr1:228327144-228328543	K562	blood:	n/a	n/a
9	MXI1	chr1:228327097-228329751	IMR90	lung:	n/a	n/a
10	MYC	chr1:228327126-228328558	K562	blood:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
11	POLR2A	chr1:228327111-228328295	HCT-116	colon:	n/a	n/a
12	ELF1	chr1:228327146-228329456	GM12878	blood:	n/a	chr1:228328261-228328273 chr1:228327699-228327711 chr1:228328106-228328115
13	CBX3	chr1:228326994-228328524	K562	blood:	n/a	n/a
14	CREB1	chr1:228327189-228328216	ECC-1	luminal epithelium:	n/a	chr1:228327618-228327631
15	POLR2A	chr1:228327167-228328418	HUVEC	blood vessel:	n/a	n/a
16	ELF1	chr1:228327187-228328272	MCF-7	breast:	n/a	chr1:228327699-228327711 chr1:228328106-228328115
17	MXI1	chr1:228327052-228329702	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:228327092-228328564	GM12892	blood:	n/a	n/a
19	POLR2A	chr1:228327139-228328409	GM12892	blood:	n/a	n/a
20	POLR2A	chr1:228327136-228327816	GM12892	blood:	n/a	n/a
21	MTA3	chr1:228327175-228328641	GM12878	blood:	n/a	n/a
22	REST	chr1:228327071-228328854	H1-neurons	neurons:	n/a	chr1:228328283-228328296 chr1:228328110-228328123 chr1:228327614-228327621 chr1:228327692-228327705
23	YY1	chr1:228327043-228327272	K562	blood:	n/a	n/a
24	TRIM28	chr1:228327140-228328412	K562	blood:	n/a	n/a
25	POLR2A	chr1:228327189-228328816	PBDE	blood:	n/a	n/a
26	MAX	chr1:228327178-228328766	A549	lung:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
27	CHD1	chr1:228327017-228329831	IMR90	lung:	n/a	n/a
28	PML	chr1:228327176-228328322	K562	blood:	n/a	n/a
29	HEY1	chr1:228327100-228328595	K562	blood:	n/a	chr1:228327905-228327920 chr1:228327638-228327653
30	POLR2A	chr1:228327114-228332328	IMR90	lung:	n/a	n/a
31	CREB1	chr1:228327125-228328383	K562	blood:	n/a	chr1:228327618-228327631
32	POLR2A	chr1:228327136-228328257	HEK293	kidney:	n/a	n/a
33	NRF1	chr1:228327040-228328146	SK-N-SH	brain:	n/a	chr1:228327695-228327704
34	POLR2A	chr1:228327034-228328622	K562	blood:	n/a	n/a
35	POLR2A	chr1:228327129-228329167	GM19193	blood:	n/a	n/a
36	NR2F2	chr1:228327128-228329051	K562	blood:	n/a	n/a
37	CREB1	chr1:228327184-228328620	GM12878	blood:	n/a	chr1:228327618-228327631
38	POLR2A	chr1:228327017-228328864	K562	blood:	n/a	n/a
39	TAF1	chr1:228327093-228328567	K562	blood:	n/a	n/a
40	CREB1	chr1:228327061-228328521	H1-hESC	embryonic stem cell:	n/a	chr1:228327618-228327631
41	POLR2A	chr1:228327162-228328437	U87	brain:	n/a	n/a
42	POLR2A	chr1:228327038-228328868	K562	blood:	n/a	n/a
43	GABPA	chr1:228327182-228328437	SK-N-SH	brain:	n/a	chr1:228327695-228327704
44	YY1	chr1:228327168-228328207	GM12878	blood:	n/a	chr1:228328107-228328118 chr1:228327692-228327706 chr1:228327701-228327712 chr1:228328109-228328123 chr1:228327698-228327712
45	POLR2A	chr1:228327165-228327740	GM12878	blood:	n/a	n/a
46	HCFC1	chr1:228327120-228328753	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr1:228327179-228328288	GM12878	blood:	n/a	chr1:228327618-228327631
48	POLR2A	chr1:228327142-228329234	GM12892	blood:	n/a	n/a
49	HEY1	chr1:228327109-228327759	K562	blood:	n/a	chr1:228327638-228327653
50	GABPA	chr1:228327029-228328578	K562	blood:	n/a	chr1:228327695-228327704

No.	Distal block	Cell Line	Cell type
1	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
2	chr1:228269915..228273320-chr1:228326449..228329096,4	K562	blood:
3	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
4	chr1:228290240..228294197-chr1:228325970..228329742,3	MCF-7	breast:
5	chr1:228269306..228272326-chr1:228326148..228329488,5	MCF-7	breast:
6	chr1:228319215..228325156-chr1:228326279..228328957,6	K562	blood:
7	chr1:228288649..228293430-chr1:228325997..228329591,7	K562	blood:
8	chr1:228318795..228319443-chr1:228326879..228327649,2	K562	blood:
9	chr1:228326695..228329093-chr1:228572036..228574543,2	K562	blood:
10	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
11	chr1:228276334..228278860-chr1:228325574..228327520,2	K562	blood:
12	chr1:228270141..228272243-chr1:228325927..228327960,2	MCF-7	breast:
13	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
14	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
15	chr1:228326723..228329419-chr1:228644101..228647035,3	K562	blood:
16	chr1:228326283..228328223-chr1:228644101..228647229,3	K562	blood:
17	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:
18	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:

Variant related genes	Relation type
GUK1	TF binding region
ENSG00000227625	TF binding region
ENSG00000264944	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000227625	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000270104	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000181218	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
5	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
6	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
9	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
10	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
11	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
12	esv3398542	chr1:228326754-228329302	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228324000-228327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:228325000-228327200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:228325200-228327200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:228325200-228327200	Weak transcription	Thymus	Thymus
5	chr1:228325800-228327200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:228326000-228327200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:228326200-228327200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:228326600-228327200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:228326800-228327200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:228326800-228327200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:228326800-228327200	Enhancers	Placenta	Placenta
12	chr1:228327000-228327200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:228327000-228327200	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr1:228327000-228327200	Active TSS	Primary B cells from cord blood	blood
15	chr1:228327000-228327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:228327000-228327200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:228327000-228327200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:228327000-228327200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:228327000-228327200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:228327000-228327200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:228327000-228327200	Enhancers	Fetal Thymus	thymus
22	chr1:228327000-228327200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:228327000-228327200	Active TSS	GM12878-XiMat	blood
24	chr1:228327000-228327400	Enhancers	Spleen	Spleen
25	chr1:228327000-228327600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:228327000-228327600	Flanking Active TSS	Dnd41	blood
31	chr1:228327000-228328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:228327000-228328000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:228327000-228328400	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:228327000-228328400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr1:228327000-228328600	Active TSS	Brain Anterior Caudate	brain
36	chr1:228327000-228328600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:228327000-228328600	Active TSS	Colonic Mucosa	Colon
38	chr1:228327000-228328600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:228327000-228328600	Active TSS	K562	blood
40	chr1:228327000-228328800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:228327000-228328800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:228327000-228328800	Active TSS	Brain Angular Gyrus	brain
43	chr1:228327000-228329000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:228327000-228329000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:228327000-228329200	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:228327000-228329200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:228327000-228329400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr1:228327000-228329400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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