Variant report

Variant	rs191549051
Chromosome Location	chr1:228327415-228327416
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	NFIC	chr1:228327297-228328069	GM12878	blood:	n/a	n/a
2	YY1	chr1:228327366-228327818	H1-hESC	embryonic stem cell:	n/a	chr1:228327692-228327706 chr1:228327701-228327712 chr1:228327698-228327712
3	YY1	chr1:228327314-228327700	A549	lung:	n/a	n/a
4	POLR2A	chr1:228327199-228329184	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:228327414-228327824	A549	lung:	n/a	n/a
6	POLR2A	chr1:228327252-228328311	HL-60	blood:	n/a	n/a
7	CHD2	chr1:228327410-228328229	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr1:228327415-228328530	ECC-1	luminal epithelium:	n/a	chr1:228328358-228328365 chr1:228328380-228328390
9	POLR2A	chr1:228327107-228328712	Raji	blood:	n/a	n/a
10	TBL1XR1	chr1:228327341-228328445	GM12878	blood:	n/a	n/a
11	TEAD4	chr1:228327203-228327818	K562	blood:	n/a	n/a
12	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
13	SIN3AK20	chr1:228327202-228328730	MCF-7	breast:	n/a	n/a
14	TCF7L2	chr1:228327352-228328115	Hela-S3	cervix:	n/a	chr1:228327627-228327641
15	SMARCB1	chr1:228327329-228328854	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr1:228327285-228328293	HepG2	liver:	n/a	chr1:228327905-228327920 chr1:228327638-228327653
17	TCF7L2	chr1:228327259-228328174	HCT-116	colon:	n/a	chr1:228327627-228327641
18	KAP1	chr1:228327352-228328130	U2OS	brain:	n/a	n/a
19	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
20	POLR2A	chr1:228327150-228328561	PFSK-1	brain:	n/a	n/a
21	UBTF	chr1:228327292-228329537	K562	blood:	n/a	n/a
22	ATF2	chr1:228327336-228328088	H1-hESC	embryonic stem cell:	n/a	chr1:228327964-228327978
23	SIN3A	chr1:228327334-228328530	GM12878	blood:	n/a	chr1:228328283-228328296
24	SIN3AK20	chr1:228327332-228328479	SK-N-SH	brain:	n/a	n/a
25	EP300	chr1:228327275-228328440	K562	blood:	n/a	n/a
26	ARID3A	chr1:228327355-228328049	K562	blood:	n/a	n/a
27	IRF4	chr1:228327324-228327872	GM12878	blood:	n/a	n/a
28	PBX3	chr1:228327331-228328225	A549	lung:	n/a	n/a
29	NRF1	chr1:228327377-228328172	GM12878	blood:	n/a	chr1:228327695-228327704
30	MAX	chr1:228327367-228328246	A549	lung:	n/a	chr1:228327695-228327705
31	TBP	chr1:228327282-228328074	GM12878	blood:	n/a	n/a
32	TAF1	chr1:228327385-228328191	GM12878	blood:	n/a	n/a
33	IRF1	chr1:228327293-228328481	K562	blood:	n/a	chr1:228327834-228327848 chr1:228327875-228327889 chr1:228327694-228327708 chr1:228328263-228328277
34	RELA	chr1:228327388-228328196	GM19099	blood:	n/a	n/a
35	FOXA1	chr1:228327400-228327969	T-47D	breast:	n/a	n/a
36	POLR2A	chr1:228327340-228328403	K562	blood:	n/a	n/a
37	EGR1	chr1:228327352-228328272	ECC-1	luminal epithelium:	n/a	chr1:228327977-228327991 chr1:228327941-228327955 chr1:228327593-228327606 chr1:228327691-228327705 chr1:228327835-228327845 chr1:228327695-228327705
38	MAX	chr1:228327196-228329894	K562	blood:	n/a	chr1:228328264-228328274 chr1:228327695-228327705
39	EGR1	chr1:228327368-228328222	K562	blood:	n/a	chr1:228327977-228327991 chr1:228327941-228327955 chr1:228327593-228327606 chr1:228327691-228327705 chr1:228327835-228327845 chr1:228327695-228327705
40	POLR2A	chr1:228327251-228328226	K562	blood:	n/a	n/a
41	WRNIP1	chr1:228327222-228327473	GM12878	blood:	n/a	n/a
42	JUN	chr1:228327040-228329256	K562	blood:	n/a	chr1:228327920-228327933
43	POLR2A	chr1:228327060-228329092	K562	blood:	n/a	n/a
44	POLR2A	chr1:228327290-228328572	GM15510	blood:	n/a	n/a
45	CREB1	chr1:228327165-228328483	HepG2	liver:	n/a	chr1:228327618-228327631
46	GATA3	chr1:228327340-228327685	T-47D	breast:	n/a	n/a
47	JUND	chr1:228327354-228328453	K562	blood:	n/a	n/a
48	CEBPB	chr1:228327277-228328113	K562	blood:	n/a	n/a
49	SRF	chr1:228327307-228328228	ECC-1	luminal epithelium:	n/a	chr1:228327699-228327709 chr1:228327638-228327648 chr1:228327695-228327705
50	TAL1	chr1:228327389-228328248	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228327365..228329534-chr1:228645028..228646794,2	MCF-7	breast:
2	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
3	chr1:228269915..228273320-chr1:228326449..228329096,4	K562	blood:
4	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
5	chr1:228290240..228294197-chr1:228325970..228329742,3	MCF-7	breast:
6	chr1:228269306..228272326-chr1:228326148..228329488,5	MCF-7	breast:
7	chr1:228319215..228325156-chr1:228326279..228328957,6	K562	blood:
8	chr1:228288649..228293430-chr1:228325997..228329591,7	K562	blood:
9	chr1:228327311..228328278-chr1:228353352..228353936,3	K562	blood:
10	chr1:228318795..228319443-chr1:228326879..228327649,2	K562	blood:
11	chr1:228326695..228329093-chr1:228572036..228574543,2	K562	blood:
12	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
13	chr1:228276334..228278860-chr1:228325574..228327520,2	K562	blood:
14	chr1:228270141..228272243-chr1:228325927..228327960,2	MCF-7	breast:
15	chr1:228327198..228328051-chr1:228353308..228354013,3	MCF-7	breast:
16	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
17	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
18	chr1:228326723..228329419-chr1:228644101..228647035,3	K562	blood:
19	chr1:228326283..228328223-chr1:228644101..228647229,3	K562	blood:
20	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:
21	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:

Variant related genes	Relation type
ENSG00000227625	TF binding region
GUK1	TF binding region
ENSG00000227625	Chromatin interaction
ENSG00000264944	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000154370	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000270104	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000196890	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228327000-228327600	Flanking Active TSS	Primary B cells from peripheral blood	blood
2	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:228327000-228327600	Flanking Active TSS	Dnd41	blood
7	chr1:228327000-228328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228327000-228328000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:228327000-228328400	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:228327000-228328400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:228327000-228328600	Active TSS	Brain Anterior Caudate	brain
12	chr1:228327000-228328600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:228327000-228328600	Active TSS	Colonic Mucosa	Colon
14	chr1:228327000-228328600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:228327000-228328600	Active TSS	K562	blood
16	chr1:228327000-228328800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:228327000-228328800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:228327000-228328800	Active TSS	Brain Angular Gyrus	brain
19	chr1:228327000-228329000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:228327000-228329000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:228327000-228329200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:228327000-228329200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:228327000-228329400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:228327000-228329400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:228327200-228327600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:228327200-228327600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:228327200-228327600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:228327200-228327600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:228327200-228327600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr1:228327200-228327600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:228327200-228327600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:228327200-228327600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:228327200-228327600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:228327200-228327600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:228327200-228327600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:228327200-228327600	Active TSS	Fetal Heart	heart
37	chr1:228327200-228327600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr1:228327200-228327600	Flanking Active TSS	Fetal Thymus	thymus
39	chr1:228327200-228327600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:228327200-228327600	Flanking Active TSS	HepG2	liver
41	chr1:228327200-228327600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:228327200-228328200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:228327200-228328200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr1:228327200-228328400	Active TSS	Stomach Smooth Muscle	stomach
45	chr1:228327200-228328600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:228327200-228328600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:228327200-228328600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:228327200-228328600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:228327200-228328600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:228327200-228328600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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