Variant report

Variant	rs568548695
Chromosome Location	chr1:228327259-228327260
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	POLR2A	chr1:228327199-228329184	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:228327252-228328311	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:228327107-228328712	Raji	blood:	n/a	n/a
4	TEAD4	chr1:228327203-228327818	K562	blood:	n/a	n/a
5	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
6	SIN3AK20	chr1:228327202-228328730	MCF-7	breast:	n/a	n/a
7	TCF7L2	chr1:228327259-228328174	HCT-116	colon:	n/a	chr1:228327627-228327641
8	EGR1	chr1:228327246-228328434	HCT-116	colon:	n/a	chr1:228327977-228327991 chr1:228328263-228328273 chr1:228327941-228327955 chr1:228327593-228327606 chr1:228327691-228327705 chr1:228327835-228327845 chr1:228327695-228327705
9	POLR2A	chr1:228327150-228328561	PFSK-1	brain:	n/a	n/a
10	MAX	chr1:228327196-228329894	K562	blood:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
11	POLR2A	chr1:228327251-228328226	K562	blood:	n/a	n/a
12	WRNIP1	chr1:228327222-228327473	GM12878	blood:	n/a	n/a
13	JUN	chr1:228327040-228329256	K562	blood:	n/a	chr1:228327920-228327933
14	POLR2A	chr1:228327060-228329092	K562	blood:	n/a	n/a
15	CREB1	chr1:228327165-228328483	HepG2	liver:	n/a	chr1:228327618-228327631
16	POLR2A	chr1:228327136-228328523	U87	brain:	n/a	n/a
17	PML	chr1:228327144-228328543	K562	blood:	n/a	n/a
18	MXI1	chr1:228327097-228329751	IMR90	lung:	n/a	n/a
19	POLR2A	chr1:228327201-228328861	HepG2	liver:	n/a	n/a
20	TCF7L2	chr1:228327217-228328169	PANC-1	pancreas:	n/a	chr1:228327627-228327641
21	MYC	chr1:228327126-228328558	K562	blood:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
22	POLR2A	chr1:228327111-228328295	HCT-116	colon:	n/a	n/a
23	ELF1	chr1:228327146-228329456	GM12878	blood:	n/a	chr1:228328261-228328273 chr1:228327699-228327711 chr1:228328106-228328115
24	CBX3	chr1:228326994-228328524	K562	blood:	n/a	n/a
25	CREB1	chr1:228327189-228328216	ECC-1	luminal epithelium:	n/a	chr1:228327618-228327631
26	GABPA	chr1:228327258-228328284	SK-N-SH	brain:	n/a	chr1:228327695-228327704
27	POLR2A	chr1:228327209-228329992	K562	blood:	n/a	n/a
28	POLR2A	chr1:228327167-228328418	HUVEC	blood vessel:	n/a	n/a
29	ELF1	chr1:228327187-228328272	MCF-7	breast:	n/a	chr1:228327699-228327711 chr1:228328106-228328115
30	MXI1	chr1:228327052-228329702	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr1:228327092-228328564	GM12892	blood:	n/a	n/a
32	POLR2A	chr1:228327139-228328409	GM12892	blood:	n/a	n/a
33	POLR2A	chr1:228327136-228327816	GM12892	blood:	n/a	n/a
34	MTA3	chr1:228327175-228328641	GM12878	blood:	n/a	n/a
35	REST	chr1:228327071-228328854	H1-neurons	neurons:	n/a	chr1:228328283-228328296 chr1:228328110-228328123 chr1:228327614-228327621 chr1:228327692-228327705
36	YY1	chr1:228327043-228327272	K562	blood:	n/a	n/a
37	CREB1	chr1:228327232-228328243	ECC-1	luminal epithelium:	n/a	chr1:228327618-228327631
38	GABPA	chr1:228327250-228328357	MCF-7	breast:	n/a	chr1:228327695-228327704
39	TRIM28	chr1:228327140-228328412	K562	blood:	n/a	n/a
40	POLR2A	chr1:228327189-228328816	PBDE	blood:	n/a	n/a
41	POLR2A	chr1:228327214-228328398	K562	blood:	n/a	n/a
42	POLR2A	chr1:228327198-228329161	GM12891	blood:	n/a	n/a
43	POLR2A	chr1:228327235-228329827	K562	blood:	n/a	n/a
44	MAX	chr1:228327178-228328766	A549	lung:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
45	IRF1	chr1:228327247-228329497	K562	blood:	n/a	chr1:228327834-228327848 chr1:228327875-228327889 chr1:228328731-228328745 chr1:228329022-228329043 chr1:228327694-228327708 chr1:228328263-228328277
46	CHD1	chr1:228327017-228329831	IMR90	lung:	n/a	n/a
47	TAF1	chr1:228327240-228328681	H1-hESC	embryonic stem cell:	n/a	n/a
48	PML	chr1:228327176-228328322	K562	blood:	n/a	n/a
49	HEY1	chr1:228327100-228328595	K562	blood:	n/a	chr1:228327905-228327920 chr1:228327638-228327653
50	CREB1	chr1:228327194-228328328	HepG2	liver:	n/a	chr1:228327618-228327631

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	chr1:228327198..228328051-chr1:228353308..228354013,3	MCF-7	breast:
14	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
15	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
16	chr1:228326723..228329419-chr1:228644101..228647035,3	K562	blood:
17	chr1:228326283..228328223-chr1:228644101..228647229,3	K562	blood:
18	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:
19	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:

Variant related genes	Relation type
ENSG00000227625	TF binding region
GUK1	TF binding region
ENSG00000181873	Chromatin interaction
ENSG00000264944	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000227625	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000270104	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000143761	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228327000-228327400	Enhancers	Spleen	Spleen
2	chr1:228327000-228327600	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:228327000-228327600	Flanking Active TSS	Dnd41	blood
8	chr1:228327000-228328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:228327000-228328000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:228327000-228328400	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:228327000-228328400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:228327000-228328600	Active TSS	Brain Anterior Caudate	brain
13	chr1:228327000-228328600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:228327000-228328600	Active TSS	Colonic Mucosa	Colon
15	chr1:228327000-228328600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:228327000-228328600	Active TSS	K562	blood
17	chr1:228327000-228328800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:228327000-228328800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:228327000-228328800	Active TSS	Brain Angular Gyrus	brain
20	chr1:228327000-228329000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:228327000-228329000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:228327000-228329200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:228327000-228329200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:228327000-228329400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:228327000-228329400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:228327200-228327400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:228327200-228327400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:228327200-228327400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:228327200-228327400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:228327200-228327400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:228327200-228327400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr1:228327200-228327400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr1:228327200-228327400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr1:228327200-228327400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr1:228327200-228327400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:228327200-228327400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:228327200-228327400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:228327200-228327400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:228327200-228327400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:228327200-228327400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:228327200-228327400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:228327200-228327400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:228327200-228327400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:228327200-228327400	Enhancers	Aorta	Aorta
45	chr1:228327200-228327400	Flanking Active TSS	Liver	Liver
46	chr1:228327200-228327400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr1:228327200-228327400	Enhancers	Fetal Brain Male	brain
48	chr1:228327200-228327400	Flanking Active TSS	Fetal Brain Female	brain
49	chr1:228327200-228327400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr1:228327200-228327400	Flanking Active TSS	Fetal Intestine Small	intestine

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