Variant report

Variant	rs528154532
Chromosome Location	chr1:226248901-226248902
allele	C/T
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	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
2	MXI1	chr1:226248834-226251514	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:226248810-226256763	K562	blood:	n/a	n/a
4	MXI1	chr1:226248469-226253081	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:226248825-226250749	K562	blood:	n/a	n/a
6	E2F4	chr1:226248590-226249086	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:226248882-226252317	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:226248825-226251497	HepG2	liver:	n/a	n/a
9	STAT5A	chr1:226248846-226250015	K562	blood:	n/a	chr1:226249037-226249060
10	EP300	chr1:226248727-226250570	K562	blood:	n/a	chr1:226249804-226249813 chr1:226250435-226250444 chr1:226249779-226249795 chr1:226250165-226250174 chr1:226249473-226249489
11	ZNF274	chr1:226248726-226249791	K562	blood:	n/a	n/a
12	GATA3	chr1:226248722-226249322	SH-SY5Y	brain:	n/a	n/a
13	TEAD4	chr1:226248646-226250254	K562	blood:	n/a	n/a
14	MYC	chr1:226248852-226251406	A549	lung:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
15	RFX5	chr1:226248840-226250583	Hela-S3	cervix:	n/a	chr1:226250349-226250358 chr1:226249252-226249261
16	POLR2A	chr1:226248773-226252207	MCF10A-Er-Src	breast:	n/a	n/a
17	IRF1	chr1:226248569-226249959	K562	blood:	n/a	chr1:226248768-226248785 chr1:226248945-226248959
18	RCOR1	chr1:226248891-226250820	K562	blood:	n/a	n/a
19	MYC	chr1:226248836-226252204	K562	blood:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
20	GATA2	chr1:226248822-226249745	SH-SY5Y	brain:	n/a	chr1:226249360-226249371
21	REST	chr1:226248727-226252449	H1-neurons	neurons:	n/a	chr1:226250481-226250494 chr1:226249770-226249783 chr1:226250012-226250025 chr1:226249016-226249025 chr1:226248922-226248931 chr1:226250746-226250759
22	NR2F2	chr1:226248644-226252993	K562	blood:	n/a	n/a
23	MYC	chr1:226248673-226248945	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr1:226248717-226248933	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:226248784-226249041	H1-hESC	embryonic stem cell:	n/a	n/a
26	KAP1	chr1:226248886-226249401	K562	blood:	n/a	n/a
27	POLR2A	chr1:226248857-226252183	K562	blood:	n/a	n/a
28	RCOR1	chr1:226248829-226249945	K562	blood:	n/a	n/a
29	NR2F2	chr1:226248820-226249972	K562	blood:	n/a	n/a
30	POLR2A	chr1:226248719-226249969	PBDE	blood:	n/a	n/a
31	POLR2A	chr1:226248530-226252815	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr1:226248658-226251667	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr1:226248869-226249042	K562	blood:	n/a	n/a
34	POLR2A	chr1:226248646-226253035	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr1:226248850-226251279	K562	blood:	n/a	chr1:226251053-226251064

No.	Distal block	Cell Line	Cell type
1	chr1:226053730..226055639-chr1:226248303..226251048,2	MCF-7	breast:
2	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
3	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
4	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
5	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
6	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
7	chr1:226248544..226249126-chr1:226270839..226271352,2	Hela-S3	cervix:
8	chr1:226213068..226214895-chr1:226247410..226249127,2	K562	blood:
9	chr1:226247090..226249451-chr1:226292552..226294249,2	K562	blood:
10	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
11	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
12	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
13	chr1:225964614..225966521-chr1:226248789..226250672,2	K562	blood:
14	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
15	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf55-1	chr1:226245769-226249546	NONHSAT009869

Variant related genes	Relation type
H3F3A	TF binding region
ENSG00000154380	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv3327023	chr1:226248854-226251702	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
2	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
3	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
4	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:226232200-226249400	Weak transcription	Gastric	stomach
6	chr1:226235200-226249200	Weak transcription	Small Intestine	intestine
7	chr1:226235400-226249200	Weak transcription	Esophagus	oesophagus
8	chr1:226238600-226249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226241000-226249200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:226242400-226249200	Weak transcription	Lung	lung
11	chr1:226242800-226249000	Weak transcription	Ovary	ovary
12	chr1:226242800-226249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:226244000-226249400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:226246000-226249000	Weak transcription	Right Ventricle	heart
15	chr1:226246800-226249000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:226247600-226249200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:226247800-226249000	Enhancers	Psoas Muscle	Psoas
18	chr1:226248000-226249000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:226248000-226249000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:226248000-226249000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:226248200-226249000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226248200-226249000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:226248200-226249000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226248200-226249000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:226248200-226249000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:226248200-226249000	Enhancers	Placenta	Placenta
27	chr1:226248200-226249000	Enhancers	Fetal Stomach	stomach
28	chr1:226248200-226249000	Enhancers	Stomach Mucosa	stomach
29	chr1:226248200-226249200	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:226248200-226249200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:226248200-226249200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:226248200-226249200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:226248200-226249400	Flanking Active TSS	Fetal Heart	heart
34	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:226248200-226249600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:226248400-226249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:226248400-226249000	Weak transcription	Left Ventricle	heart
40	chr1:226248400-226249200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:226248600-226249000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:226248600-226249000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:226248600-226249000	Enhancers	Brain Angular Gyrus	brain
44	chr1:226248600-226249000	Enhancers	Brain Hippocampus Middle	brain
45	chr1:226248600-226249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:226248600-226249000	Enhancers	Fetal Brain Male	brain
47	chr1:226248600-226249000	Flanking Active TSS	Fetal Brain Female	brain
48	chr1:226248600-226249000	Enhancers	HMEC	breast
49	chr1:226248600-226249200	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr1:226248600-226249200	Flanking Active TSS	HepG2	liver

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