Variant report

Variant	rs116271913
Chromosome Location	chr1:226249422-226249423
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	YY1	chr1:226249373-226249833	GM12892	blood:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226249561-226249569
2	POLR2A	chr1:226249047-226251609	Hela-S3	cervix:	n/a	n/a
3	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
4	RFX5	chr1:226249318-226249896	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:226249356-226251735	GM18505	blood:	n/a	n/a
6	POLR2A	chr1:226249375-226251078	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr1:226249374-226249859	GM12878	blood:	n/a	n/a
8	CREB1	chr1:226249067-226250858	K562	blood:	n/a	n/a
9	MAX	chr1:226249418-226250589	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:226249421-226249864	U87	brain:	n/a	n/a
11	MXI1	chr1:226248834-226251514	Hela-S3	cervix:	n/a	n/a
12	TAF7	chr1:226249366-226252248	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr1:226249133-226251486	SK-N-SH	brain:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226250437-226250446 chr1:226250796-226250807 chr1:226250432-226250446 chr1:226250678-226250692 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226250013-226250022 chr1:226249561-226249569 chr1:226250412-226250420 chr1:226250442-226250451 chr1:226250678-226250687 chr1:226250799-226250808 chr1:226250972-226250984
14	POLR2A	chr1:226249360-226250644	HCT-116	colon:	n/a	n/a
15	CREB1	chr1:226249296-226250750	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:226249337-226251503	NB4	blood:	n/a	n/a
17	BCLAF1	chr1:226249142-226250288	K562	blood:	n/a	chr1:226249777-226249790 chr1:226249655-226249668 chr1:226249771-226249784 chr1:226249778-226249791 chr1:226250007-226250016
18	MAX	chr1:226249409-226250502	K562	blood:	n/a	n/a
19	PML	chr1:226249030-226251155	K562	blood:	n/a	n/a
20	TAF1	chr1:226249317-226250000	GM12878	blood:	n/a	n/a
21	YY1	chr1:226249306-226250011	ECC-1	luminal epithelium:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226249561-226249569
22	POLR2A	chr1:226249112-226251663	HUVEC	blood vessel:	n/a	n/a
23	MAX	chr1:226249258-226251649	K562	blood:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
24	POLR2A	chr1:226248810-226256763	K562	blood:	n/a	n/a
25	GABPA	chr1:226249397-226250887	K562	blood:	n/a	chr1:226249804-226249813 chr1:226250016-226250025 chr1:226249741-226249750 chr1:226250761-226250770
26	HEY1	chr1:226249385-226250754	HepG2	liver:	n/a	chr1:226250432-226250447 chr1:226250435-226250450
27	NFIC	chr1:226249138-226249953	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:226249305-226249884	U87	brain:	n/a	n/a
29	POLR2A	chr1:226249406-226250258	GM12878	blood:	n/a	n/a
30	MTA3	chr1:226249141-226249704	GM12878	blood:	n/a	n/a
31	SMC3	chr1:226249106-226250838	Hela-S3	cervix:	n/a	chr1:226250669-226250683 chr1:226249498-226249505
32	YY1	chr1:226249298-226251372	HepG2	liver:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226250437-226250446 chr1:226250796-226250807 chr1:226250432-226250446 chr1:226250678-226250692 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226250013-226250022 chr1:226249561-226249569 chr1:226250412-226250420 chr1:226250442-226250451 chr1:226250678-226250687 chr1:226250799-226250808 chr1:226250972-226250984
33	POLR2A	chr1:226249406-226250965	K562	blood:	n/a	n/a
34	E2F6	chr1:226249305-226250439	A549	lung:	n/a	chr1:226249745-226249756 chr1:226249744-226249756 chr1:226249804-226249813 chr1:226250010-226250019
35	POLR2A	chr1:226249126-226251671	K562	blood:	n/a	n/a
36	TCF7L2	chr1:226249398-226250952	HCT-116	colon:	n/a	n/a
37	YY1	chr1:226249326-226251539	GM12878	blood:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226250437-226250446 chr1:226250796-226250807 chr1:226250432-226250446 chr1:226250678-226250692 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226250013-226250022 chr1:226249561-226249569 chr1:226250412-226250420 chr1:226250442-226250451 chr1:226250678-226250687 chr1:226250799-226250808 chr1:226250972-226250984
38	ATF2	chr1:226249279-226249753	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF143	chr1:226249317-226249946	Hela-S3	cervix:	n/a	chr1:226249804-226249814
40	POLR2A	chr1:226249055-226251570	K562	blood:	n/a	n/a
41	YY1	chr1:226249309-226251367	GM12891	blood:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226250437-226250446 chr1:226250796-226250807 chr1:226250432-226250446 chr1:226250678-226250692 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226250013-226250022 chr1:226249561-226249569 chr1:226250412-226250420 chr1:226250442-226250451 chr1:226250678-226250687 chr1:226250799-226250808 chr1:226250972-226250984
42	ELF1	chr1:226249385-226250981	GM12878	blood:	n/a	chr1:226250583-226250595 chr1:226250013-226250022 chr1:226250678-226250687 chr1:226250437-226250446
43	ZC3H11A	chr1:226249196-226249844	K562	blood:	n/a	n/a
44	JUND	chr1:226249296-226250706	K562	blood:	n/a	chr1:226250348-226250357
45	POLR2A	chr1:226249363-226251573	GM12892	blood:	n/a	n/a
46	POLR2A	chr1:226249344-226250255	Hela-S3	cervix:	n/a	n/a
47	MAFK	chr1:226249020-226249909	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:226249397-226250296	HUVEC	blood vessel:	n/a	n/a
49	CREB1	chr1:226249377-226250550	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:226249009-226251573	HL-60	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226249408-226249458	HCF	heart:	n/a
2	chr1:226249408-226249458	BJ	skin:	n/a
3	chr1:226249408-226249458	AG09309	skin:	n/a
4	chr1:226249408-226249458	HAEpiC	amniotic membrane:	n/a
5	chr1:226249408-226249458	NT2-D1	testis:	n/a
6	chr1:226249408-226249458	HL-60	blood:	n/a
7	chr1:226249408-226249458	NH-A	brain:	n/a
8	chr1:226249408-226249458	Caco-2	colon:	n/a
9	chr1:226249408-226249458	ProgFib	skin:	n/a
10	chr1:226249408-226249458	SK-N-SH	brain:	n/a
11	chr1:226249408-226249458	Jurkat	blood:	n/a
12	chr1:226249408-226249458	Hepatocyte	liver:	n/a
13	chr1:226249408-226249458	HPAEpiC	pulmonary alveolar:	n/a
14	chr1:226249408-226249458	NB4	blood:	n/a
15	chr1:226249408-226249458	H1-hESC	embryonic stem cell:	embryo
16	chr1:226249408-226249458	GM19239	blood:	n/a
17	chr1:226249408-226249458	A549	lung:	n/a
18	chr1:226249408-226249458	HCT-116	colon:	n/a
19	chr1:226249408-226249458	ovcar-3	ovarian:	n/a
20	chr1:226249408-226249458	HIPEpiC	eye:	n/a
21	chr1:226249408-226249458	AG09319	gingival:	n/a
22	chr1:226249408-226249458	RPTEC	kidney:	n/a
23	chr1:226249408-226249458	HRCEpiC	kidney:	n/a
24	chr1:226249408-226249458	AG10803	skin:	n/a
25	chr1:226249408-226249458	MCF-7	breast:	n/a
26	chr1:226249408-226249458	HCPEpiC	choroid plexus:	n/a
27	chr1:226249408-226249458	BE2_C	brain:	n/a
28	chr1:226249408-226249458	SK-N-MC	brain:	n/a
29	chr1:226249408-226249458	CMK	blood:	n/a
30	chr1:226249408-226249458	HCM	heart:	n/a
31	chr1:226249408-226249458	HEK293	kidney:	embryo
32	chr1:226249408-226249458	ECC-1	luminal epithelium:	n/a
33	chr1:226249408-226249458	SK-N-SH_RA	brain:	n/a
34	chr1:226249408-226249458	NHBE	bronchial:	n/a
35	chr1:226249408-226249458	GM12892	blood:	n/a
36	chr1:226249408-226249458	NHDF-neo	bronchial:	n/a
37	chr1:226249408-226249458	HEEpiC	esophagus:	n/a
38	chr1:226249408-226249458	AoSMC	blood vessel:	n/a
39	chr1:226249408-226249458	K562	blood:	n/a
40	chr1:226249408-226249458	PANC-1	pancreas:	n/a
41	chr1:226249408-226249458	HUVEC	blood vessel:	n/a
42	chr1:226249408-226249458	AG04449	skin:	fetal
43	chr1:226249408-226249458	GM12891	blood:	n/a
44	chr1:226249408-226249458	SKMC	muscle:	n/a
45	chr1:226249408-226249458	PFSK-1	brain:	n/a
46	chr1:226249408-226249458	HRE	kidney:	n/a
47	chr1:226249408-226249458	MCF10A-Er-Src	breast:	n/a
48	chr1:226249408-226249458	HRPEpiC	eye:	n/a
49	chr1:226249408-226249458	LNCaP	prostate:	n/a
50	chr1:226249408-226249458	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:226249387..226250153-chr17:27046599..27047373,2	Hela-S3	cervix:
2	chr1:226053730..226055639-chr1:226248303..226251048,2	MCF-7	breast:
3	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
4	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
5	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
6	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
7	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
8	chr1:226249145..226251355-chr5:138634621..138637026,2	MCF-7	breast:
9	chr1:144533790..144534425-chr1:226249029..226249552,2	Hela-S3	cervix:
10	chr1:225614646..225616665-chr1:226249352..226251446,2	K562	blood:
11	chr1:226249205..226249806-chr7:16685776..16686578,2	Hela-S3	cervix:
12	chr1:226248937..226249745-chr3:135914572..135915298,2	Hela-S3	cervix:
13	chr1:45284133..45286762-chr1:226249402..226251655,2	K562	blood:
14	chr1:226249163..226250085-chr19:59010196..59010725,2	Hela-S3	cervix:
15	chr1:226247090..226249451-chr1:226292552..226294249,2	K562	blood:
16	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
17	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
18	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
19	chr1:225964614..225966521-chr1:226248789..226250672,2	K562	blood:
20	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
21	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
H3F3A	CpG island
ENSG00000143742	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000198242	Chromatin interaction
ENSG00000199545	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000174579	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000083807	Chromatin interaction
ENSG00000225518	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3386707	chr1:226249329-226251427	Flanking Active TSS Active TSS Weak transcription Enhancers 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr1:226248200-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226248200-226249600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:226248600-226249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226248600-226249800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:226248800-226249600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:226248800-226249600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr1:226248800-226249600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:226248800-226249600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:226248800-226249600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:226248800-226249600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:226248800-226249600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr1:226248800-226249600	Flanking Active TSS	Dnd41	blood
16	chr1:226248800-226252600	Active TSS	NH-A	brain
17	chr1:226248800-226252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:226248800-226252800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:226248800-226253000	Active TSS	NHLF	lung
20	chr1:226248800-226253200	Active TSS	Colonic Mucosa	Colon
21	chr1:226248800-226253400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:226248800-226253400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:226249000-226249600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:226249000-226249600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:226249000-226249600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:226249000-226249600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr1:226249000-226249600	Flanking Active TSS	Fetal Brain Male	brain
28	chr1:226249000-226249600	Flanking Active TSS	GM12878-XiMat	blood
29	chr1:226249000-226249600	Flanking Active TSS	HMEC	breast
30	chr1:226249000-226249600	Flanking Active TSS	NHEK	skin
31	chr1:226249000-226249800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:226249000-226252400	Active TSS	HSMM	muscle
33	chr1:226249000-226252600	Active TSS	Colon Smooth Muscle	Colon
34	chr1:226249000-226252600	Active TSS	Fetal Brain Female	brain
35	chr1:226249000-226252800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:226249000-226252800	Active TSS	Left Ventricle	heart
37	chr1:226249000-226253000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:226249000-226253000	Active TSS	Psoas Muscle	Psoas
39	chr1:226249000-226253200	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:226249000-226253200	Active TSS	Ovary	ovary
41	chr1:226249000-226253400	Active TSS	Fetal Intestine Large	intestine
42	chr1:226249000-226253400	Active TSS	Right Ventricle	heart
43	chr1:226249200-226249600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:226249200-226249600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr1:226249200-226249600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:226249200-226249600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:226249200-226249600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:226249200-226249600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:226249200-226249600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:226249200-226249800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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