Variant report

Variant	rs551594425
Chromosome Location	chr1:226249784-226249785
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	HDAC2	chr1:226249583-226250294	K562	blood:	n/a	n/a
2	YY1	chr1:226249373-226249833	GM12892	blood:	n/a	chr1:226249735-226249749 chr1:226249769-226249780 chr1:226249556-226249575 chr1:226249558-226249580 chr1:226249561-226249569
3	POLR2A	chr1:226249047-226251609	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr1:226248795-226252344	IMR90	lung:	n/a	chr1:226250205-226250215 chr1:226250686-226250696 chr1:226250156-226250166 chr1:226250759-226250769 chr1:226250029-226250039
5	RFX5	chr1:226249318-226249896	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:226249356-226251735	GM18505	blood:	n/a	n/a
7	POLR2A	chr1:226249375-226251078	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:226249374-226249859	GM12878	blood:	n/a	n/a
9	CREB1	chr1:226249067-226250858	K562	blood:	n/a	n/a
10	MAX	chr1:226249418-226250589	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:226249421-226249864	U87	brain:	n/a	n/a
12	POLR2A	chr1:226249449-226250625	A549	lung:	n/a	n/a
13	ZNF384	chr1:226249511-226249854	K562	blood:	n/a	n/a
14	ELK1	chr1:226249747-226249947	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr1:226248834-226251514	Hela-S3	cervix:	n/a	n/a
16	TAF7	chr1:226249366-226252248	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr1:226249430-226250869	HepG2	liver:	n/a	n/a
18	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
19	POLR2A	chr1:226249425-226250784	A549	lung:	n/a	n/a
20	POLR2A	chr1:226249360-226250644	HCT-116	colon:	n/a	n/a
21	JUND	chr1:226249500-226250779	A549	lung:	n/a	chr1:226250348-226250357
22	TEAD4	chr1:226249654-226250510	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr1:226249296-226250750	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:226249337-226251503	NB4	blood:	n/a	n/a
25	BCLAF1	chr1:226249142-226250288	K562	blood:	n/a	chr1:226249777-226249790 chr1:226249655-226249668 chr1:226249771-226249784 chr1:226249778-226249791 chr1:226250007-226250016
26	ESR1	chr1:226249535-226250092	ECC-1	luminal epithelium:	n/a	n/a
27	MAX	chr1:226249409-226250502	K562	blood:	n/a	n/a
28	SIN3AK20	chr1:226249467-226251625	K562	blood:	n/a	n/a
29	PML	chr1:226249030-226251155	K562	blood:	n/a	n/a
30	TAF1	chr1:226249317-226250000	GM12878	blood:	n/a	n/a
31	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
32	ZBTB7A	chr1:226249543-226250308	K562	blood:	n/a	chr1:226249574-226249582
33	E2F6	chr1:226249594-226250589	K562	blood:	n/a	chr1:226249745-226249756 chr1:226249744-226249756 chr1:226249804-226249813 chr1:226250432-226250442 chr1:226250435-226250445 chr1:226250010-226250019 chr1:226250442-226250451 chr1:226250522-226250537
34	SP1	chr1:226249548-226250612	H1-hESC	embryonic stem cell:	n/a	chr1:226250029-226250038 chr1:226250119-226250130 chr1:226250035-226250049 chr1:226250028-226250042
35	POLR2A	chr1:226249112-226251663	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr1:226249258-226251649	K562	blood:	n/a	chr1:226251147-226251156 chr1:226251147-226251156 chr1:226251146-226251157 chr1:226251148-226251155
37	POLR2A	chr1:226248810-226256763	K562	blood:	n/a	n/a
38	GABPA	chr1:226249397-226250887	K562	blood:	n/a	chr1:226249804-226249813 chr1:226250016-226250025 chr1:226249741-226249750 chr1:226250761-226250770
39	HEY1	chr1:226249385-226250754	HepG2	liver:	n/a	chr1:226250432-226250447 chr1:226250435-226250450
40	NFIC	chr1:226249138-226249953	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:226249305-226249884	U87	brain:	n/a	n/a
42	POLR2A	chr1:226249406-226250258	GM12878	blood:	n/a	n/a
43	ARID3A	chr1:226249576-226249828	HepG2	liver:	n/a	n/a
44	SMC3	chr1:226249106-226250838	Hela-S3	cervix:	n/a	chr1:226250669-226250683 chr1:226249498-226249505
45	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
46	ELF1	chr1:226249550-226249997	HepG2	liver:	n/a	n/a
47	ELF1	chr1:226249545-226250289	MCF-7	breast:	n/a	chr1:226250013-226250022
48	POLR2A	chr1:226249406-226250965	K562	blood:	n/a	n/a
49	E2F6	chr1:226249305-226250439	A549	lung:	n/a	chr1:226249745-226249756 chr1:226249744-226249756 chr1:226249804-226249813 chr1:226250010-226250019
50	POLR2A	chr1:226249126-226251671	K562	blood:	n/a	n/a

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	chr1:226249482..226250105-chr11:67777477..67778223,2	Hela-S3	cervix:
6	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
7	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
8	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
9	chr1:226249145..226251355-chr5:138634621..138637026,2	MCF-7	breast:
10	chr1:226249721..226252045-chr1:226495735..226498532,3	K562	blood:
11	chr1:226249766..226250543-chr6:26216732..26217538,2	Hela-S3	cervix:
12	chr1:225614646..225616665-chr1:226249352..226251446,2	K562	blood:
13	chr1:226249205..226249806-chr7:16685776..16686578,2	Hela-S3	cervix:
14	chr1:225839962..225842492-chr1:226249684..226252539,2	MCF-7	breast:
15	chr1:45284133..45286762-chr1:226249402..226251655,2	K562	blood:
16	chr1:226249163..226250085-chr19:59010196..59010725,2	Hela-S3	cervix:
17	chr1:225838732..225840997-chr1:226248323..226251215,2	MCF-7	breast:
18	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
19	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
20	chr1:225964614..225966521-chr1:226248789..226250672,2	K562	blood:
21	chr1:226249432..226250174-chr19:50083021..50083902,2	Hela-S3	cervix:
22	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
23	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf55-2	chr1:226249649-226249836	NONHSAT009870

Variant related genes	Relation type
ENSG00000272562	TF binding region
H3F3A	TF binding region
ENSG00000198242	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000142546	Chromatin interaction
ENSG00000199545	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000083807	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000183814	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000196187	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	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:226248600-226249800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr1:226248800-226252600	Active TSS	NH-A	brain
4	chr1:226248800-226252800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:226248800-226252800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:226248800-226253000	Active TSS	NHLF	lung
7	chr1:226248800-226253200	Active TSS	Colonic Mucosa	Colon
8	chr1:226248800-226253400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:226248800-226253400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:226249000-226249800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:226249000-226252400	Active TSS	HSMM	muscle
12	chr1:226249000-226252600	Active TSS	Colon Smooth Muscle	Colon
13	chr1:226249000-226252600	Active TSS	Fetal Brain Female	brain
14	chr1:226249000-226252800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:226249000-226252800	Active TSS	Left Ventricle	heart
16	chr1:226249000-226253000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:226249000-226253000	Active TSS	Psoas Muscle	Psoas
18	chr1:226249000-226253200	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:226249000-226253200	Active TSS	Ovary	ovary
20	chr1:226249000-226253400	Active TSS	Fetal Intestine Large	intestine
21	chr1:226249000-226253400	Active TSS	Right Ventricle	heart
22	chr1:226249200-226249800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:226249200-226250000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:226249200-226250600	Active TSS	HepG2	liver
25	chr1:226249200-226252000	Active TSS	Small Intestine	intestine
26	chr1:226249200-226252200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:226249200-226252200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226249200-226252200	Active TSS	Esophagus	oesophagus
29	chr1:226249200-226252200	Active TSS	Lung	lung
30	chr1:226249200-226252200	Active TSS	Pancreas	Pancrea
31	chr1:226249200-226252400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:226249200-226252400	Active TSS	Brain Anterior Caudate	brain
33	chr1:226249200-226252400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr1:226249200-226252600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:226249200-226252800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:226249200-226252800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:226249200-226252800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:226249200-226252800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:226249200-226252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:226249200-226252800	Active TSS	Brain Germinal Matrix	brain
41	chr1:226249200-226253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:226249200-226253000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:226249200-226253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:226249200-226253000	Active TSS	Aorta	Aorta
45	chr1:226249200-226253400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:226249200-226253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:226249200-226253400	Active TSS	Fetal Intestine Small	intestine
48	chr1:226249400-226249800	Active TSS	Stomach Mucosa	stomach
49	chr1:226249400-226250600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:226249400-226250600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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