Variant report

Variant	rs74140918
Chromosome Location	chr1:228273076-228273077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:228272784-228273510	K562	blood:	n/a	n/a
2	POLR2A	chr1:228273028-228273400	HUVEC	blood vessel:	n/a	n/a
3	GATA1	chr1:228273017-228273618	PBDE	blood:	n/a	chr1:228273208-228273225 chr1:228273335-228273344
4	POLR2A	chr1:228268843-228274035	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:228272473-228273959	K562	blood:	n/a	n/a
6	CEBPB	chr1:228272982-228273761	IMR90	lung:	n/a	chr1:228273557-228273568
7	POLR2A	chr1:228272898-228273598	U87	brain:	n/a	n/a
8	FOS	chr1:228273000-228273712	HUVEC	blood vessel:	n/a	n/a
9	SMC3	chr1:228273046-228273076	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:228272687-228273955	HepG2	liver:	n/a	n/a
11	REST	chr1:228273059-228273438	K562	blood:	n/a	n/a
12	TBL1XR1	chr1:228271690-228273696	K562	blood:	n/a	n/a
13	MXI1	chr1:228272926-228273822	IMR90	lung:	n/a	n/a
14	POLR2A	chr1:228272969-228273934	Hela-S3	cervix:	n/a	n/a
15	NRF1	chr1:228272867-228273186	GM12878	blood:	n/a	n/a
16	MAZ	chr1:228272714-228273254	GM12878	blood:	n/a	n/a
17	NR2F2	chr1:228272391-228273676	K562	blood:	n/a	chr1:228272719-228272734
18	POLR2A	chr1:228272802-228273493	HL-60	blood:	n/a	n/a
19	MYC	chr1:228273021-228273558	K562	blood:	n/a	n/a
20	POLR2A	chr1:228273049-228273081	HepG2	liver:	n/a	n/a
21	ZMIZ1	chr1:228273062-228273451	K562	blood:	n/a	n/a
22	RCOR1	chr1:228272725-228273537	K562	blood:	n/a	n/a
23	POLR2A	chr1:228272908-228273415	GM12892	blood:	n/a	n/a
24	WRNIP1	chr1:228270941-228273725	GM12878	blood:	n/a	n/a
25	TBL1XR1	chr1:228273054-228273410	K562	blood:	n/a	n/a
26	TEAD4	chr1:228272907-228273449	K562	blood:	n/a	n/a
27	CHD1	chr1:228269799-228274173	IMR90	lung:	n/a	n/a
28	CHD1	chr1:228272824-228273389	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:228271444-228273196	U87	brain:	n/a	n/a
30	POLR2A	chr1:228272734-228273622	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr1:228272990-228273202	GM12878	blood:	n/a	n/a
32	EBF1	chr1:228272898-228273397	GM12878	blood:	n/a	chr1:228273140-228273151 chr1:228273161-228273172
33	STAT3	chr1:228273027-228273823	MCF10A-Er-Src	breast:	n/a	chr1:228273527-228273538
34	MAFF	chr1:228273032-228273554	K562	blood:	n/a	n/a
35	POLR2A	chr1:228272477-228273769	K562	blood:	n/a	n/a
36	USF2	chr1:228272938-228273257	GM12878	blood:	n/a	chr1:228273042-228273058
37	POLR2A	chr1:228270916-228274005	GM12878	blood:	n/a	n/a
38	ELF1	chr1:228272864-228273499	K562	blood:	n/a	n/a
39	POLR2A	chr1:228272522-228273789	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:228269976-228273984	K562	blood:	n/a	n/a
41	KAP1	chr1:228271584-228273557	HEK293	kidney:	n/a	n/a
42	CBX3	chr1:228272954-228273496	K562	blood:	n/a	n/a
43	POLR2A	chr1:228269469-228273948	IMR90	lung:	n/a	n/a
44	TAL1	chr1:228273027-228273513	K562	blood:	n/a	chr1:228273208-228273226
45	USF2	chr1:228272930-228273111	HepG2	liver:	n/a	chr1:228273042-228273058
46	ZNF263	chr1:228272964-228273320	HEK293-T-REx	kidney:	n/a	n/a
47	POLR2A	chr1:228272566-228273810	K562	blood:	n/a	n/a
48	NR2F2	chr1:228271173-228273473	K562	blood:	n/a	chr1:228272389-228272404 chr1:228272719-228272734
49	POLR2A	chr1:228272941-228273218	GM12891	blood:	n/a	n/a
50	PBX3	chr1:228273014-228273284	GM12878	blood:	n/a	chr1:228273174-228273183

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228269915..228273320-chr1:228326449..228329096,4	K562	blood:
2	chr1:228272480..228275319-chr1:228642509..228645344,2	K562	blood:
3	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
4	chr1:228271974..228275319-chr1:228643789..228645457,3	K562	blood:
5	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
6	chr1:228271007..228273553-chr1:228330538..228333178,2	MCF-7	breast:
7	chr1:228198470..228200225-chr1:228272240..228274901,2	K562	blood:
8	chr1:228272716..228274410-chr1:228315377..228316904,2	K562	blood:
9	chr1:228272232..228274964-chr1:228309512..228311112,2	K562	blood:
10	chr1:228187607..228189988-chr1:228271798..228274148,2	K562	blood:
11	chr1:228272139..228273835-chr1:228675045..228676865,2	MCF-7	breast:
12	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
13	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
14	chr1:228131240..228133349-chr1:228272206..228274582,2	K562	blood:
15	chr1:227973508..227976414-chr1:228271906..228274660,2	K562	blood:

No data

Variant related genes	Relation type
ARF1	TF binding region
ENSG00000168159	Chromatin interaction
ENSG00000154342	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000143774	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs15109	0.90[ASN][1000 genomes]
rs16848270	1.00[ASN][1000 genomes]
rs55686465	1.00[ASN][1000 genomes]
rs55904630	0.90[ASN][1000 genomes]
rs55923168	1.00[ASN][1000 genomes]
rs55954688	1.00[AFR][1000 genomes]
rs56003736	1.00[ASN][1000 genomes]
rs56029925	1.00[ASN][1000 genomes]
rs56080014	0.90[ASN][1000 genomes]
rs56226852	1.00[AFR][1000 genomes]
rs56285667	0.90[ASN][1000 genomes]
rs56377909	0.90[ASN][1000 genomes]
rs56831205	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57446195	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57450243	1.00[AFR][1000 genomes]
rs58035269	1.00[AFR][1000 genomes]
rs58045861	0.90[ASN][1000 genomes]
rs59478442	0.90[ASN][1000 genomes]
rs60245137	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61230585	1.00[ASN][1000 genomes]
rs61401568	0.90[ASN][1000 genomes]
rs61737797	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140907	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140910	1.00[ASN][1000 genomes]
rs74140912	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140914	1.00[AFR][1000 genomes]
rs74140915	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140916	1.00[ASN][1000 genomes]
rs74140919	1.00[ASN][1000 genomes]
rs74140923	1.00[ASN][1000 genomes]
rs74140924	1.00[AFR][1000 genomes]
rs74140925	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140953	1.00[ASN][1000 genomes]
rs74140954	1.00[ASN][1000 genomes]
rs74140955	1.00[ASN][1000 genomes]
rs74140956	1.00[ASN][1000 genomes]
rs74140957	1.00[ASN][1000 genomes]
rs74140960	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140961	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140963	1.00[ASN][1000 genomes]
rs74140965	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74140967	1.00[ASN][1000 genomes]
rs74140969	0.90[ASN][1000 genomes]
rs74140970	0.90[ASN][1000 genomes]
rs74140973	0.90[ASN][1000 genomes]
rs74140976	0.90[ASN][1000 genomes]
rs74140978	0.90[ASN][1000 genomes]
rs74140980	0.90[ASN][1000 genomes]
rs74140989	0.90[ASN][1000 genomes]
rs74140994	0.90[ASN][1000 genomes]
rs74140996	0.90[ASN][1000 genomes]
rs74141002	0.90[ASN][1000 genomes]
rs74142606	0.90[ASN][1000 genomes]
rs74142608	0.90[ASN][1000 genomes]
rs74142625	0.90[ASN][1000 genomes]
rs74142627	0.90[ASN][1000 genomes]
rs74142642	0.90[ASN][1000 genomes]
rs74142644	0.90[ASN][1000 genomes]
rs74142645	0.90[ASN][1000 genomes]
rs74142647	0.90[ASN][1000 genomes]
rs74143623	1.00[AFR][1000 genomes]
rs74143631	1.00[ASN][1000 genomes]
rs74143632	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74143634	1.00[ASN][1000 genomes]
rs74143635	1.00[ASN][1000 genomes]
rs74143636	1.00[ASN][1000 genomes]
rs74143637	1.00[ASN][1000 genomes]
rs74143638	1.00[ASN][1000 genomes]
rs74143640	1.00[ASN][1000 genomes]
rs74143641	1.00[ASN][1000 genomes]
rs74143642	1.00[ASN][1000 genomes]
rs74143662	1.00[ASN][1000 genomes]
rs74143663	1.00[AFR][1000 genomes]
rs74143665	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74143667	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs752108	1.00[ASN][1000 genomes]
rs752109	1.00[ASN][1000 genomes]

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	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	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228271000-228273400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:228271000-228273600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:228271000-228273600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr1:228271000-228273800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:228271000-228274000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:228271200-228273200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:228271200-228273600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:228271200-228274000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:228271400-228273200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:228271400-228273400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:228271400-228273400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr1:228271400-228273400	Flanking Active TSS	Right Ventricle	heart
13	chr1:228271400-228273600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:228271400-228273600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:228271400-228273600	Transcr. at gene 5' and 3'	K562	blood
16	chr1:228271400-228273600	Transcr. at gene 5' and 3'	NHEK	skin
17	chr1:228271400-228273800	Flanking Active TSS	Left Ventricle	heart
18	chr1:228271400-228274000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:228271400-228274200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr1:228271600-228273200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:228271600-228273400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:228271600-228273600	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr1:228271600-228273800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
24	chr1:228271600-228273800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:228271600-228273800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr1:228271600-228273800	Flanking Active TSS	Colonic Mucosa	Colon
27	chr1:228271600-228274000	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr1:228271600-228274000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:228271600-228278600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:228271800-228273200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr1:228271800-228273200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:228271800-228273400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:228271800-228274000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:228271800-228274000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:228271800-228274000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:228272000-228273200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:228272000-228273200	Flanking Active TSS	Stomach Mucosa	stomach
38	chr1:228272000-228273600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:228272000-228273600	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr1:228272000-228273800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:228272000-228273800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:228272000-228274000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:228272000-228274000	Flanking Active TSS	HUVEC	blood vessel
44	chr1:228272000-228275200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:228272000-228275400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:228272000-228275800	Enhancers	Spleen	Spleen
47	chr1:228272200-228273200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr1:228272200-228273200	Genic enhancers	Thymus	Thymus
49	chr1:228272200-228273400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:228272200-228274000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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