Variant report

Variant	rs554885979
Chromosome Location	chr1:94374481-94374482
allele	G/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	POLR2A	chr1:94374336-94374660	HepG2	liver:	n/a	n/a
2	TCF3	chr1:94374340-94374761	GM12878	blood:	n/a	n/a
3	TCF12	chr1:94374180-94375503	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr1:94374261-94374588	T-47D	breast:	n/a	n/a
5	HDAC2	chr1:94374339-94374720	MCF-7	breast:	n/a	n/a
6	MYC	chr1:94373955-94374560	NB4	blood:	n/a	n/a
7	POLR2A	chr1:94374230-94375393	GM19193	blood:	n/a	n/a
8	POLR2A	chr1:94374259-94375446	GM15510	blood:	n/a	n/a
9	E2F6	chr1:94374281-94375453	K562	blood:	n/a	chr1:94375442-94375451 chr1:94374910-94374917 chr1:94374840-94374850 chr1:94374904-94374914 chr1:94374910-94374917 chr1:94374906-94374918 chr1:94375188-94375197 chr1:94374910-94374917
10	HCFC1	chr1:94373924-94375533	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:94374422-94375429	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:94374209-94375467	GM18951	blood:	n/a	n/a
13	UBTF	chr1:94374161-94375618	K562	blood:	n/a	n/a
14	HEY1	chr1:94374206-94374625	K562	blood:	n/a	n/a
15	STAT3	chr1:94374477-94374546	MCF10A-Er-Src	breast:	n/a	chr1:94374497-94374509
16	JUN	chr1:94373742-94375901	K562	blood:	n/a	chr1:94374760-94374769
17	POLR2A	chr1:94374260-94375510	K562	blood:	n/a	n/a
18	JUND	chr1:94374428-94374512	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr1:94374301-94375426	HepG2	liver:	n/a	n/a
20	ESR1	chr1:94374210-94374543	T-47D	breast:	n/a	n/a
21	UBTF	chr1:94374216-94375395	K562	blood:	n/a	n/a
22	POLR2A	chr1:94374219-94375549	H1-neurons	neurons:	n/a	n/a
23	MYC	chr1:94374343-94374544	MCF-7	breast:	n/a	n/a
24	TFAP2A	chr1:94374036-94375446	Hela-S3	cervix:	n/a	chr1:94374505-94374517 chr1:94375323-94375338 chr1:94374505-94374516 chr1:94374877-94374885 chr1:94375222-94375233 chr1:94375129-94375141 chr1:94374505-94374516 chr1:94375124-94375139 chr1:94374505-94374516 chr1:94374500-94374515
25	RUNX3	chr1:94374103-94374610	GM12878	blood:	n/a	n/a
26	HDAC2	chr1:94374257-94374650	HepG2	liver:	n/a	n/a
27	SMARCB1	chr1:94374173-94375480	Hela-S3	cervix:	n/a	n/a
28	EBF1	chr1:94374191-94374617	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr1:94374171-94375457	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr1:94373937-94375710	PBDE	blood:	n/a	n/a
31	ESR1	chr1:94374258-94374643	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr1:94374177-94375572	K562	blood:	n/a	n/a
33	POLR2A	chr1:94374365-94375471	A549	lung:	n/a	n/a
34	POLR2A	chr1:94374225-94375437	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:94374216-94375435	Gliobla	brain:	n/a	n/a
36	SMC3	chr1:94374238-94374483	Hela-S3	cervix:	n/a	n/a
37	MYC	chr1:94374374-94374488	GM12878	blood:	n/a	n/a
38	ELK1	chr1:94374340-94374489	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:94374266-94374673	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F6	chr1:94374336-94374564	K562	blood:	n/a	n/a
41	ZNF384	chr1:94374235-94374528	K562	blood:	n/a	n/a
42	MAX	chr1:94374237-94374857	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr1:94374236-94375394	Hela-S3	cervix:	n/a	chr1:94375076-94375086
44	MAZ	chr1:94374276-94374632	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:94374158-94375420	A549	lung:	n/a	n/a
46	TCF12	chr1:94374274-94374581	GM12878	blood:	n/a	n/a
47	WRNIP1	chr1:94374197-94374512	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:94374311-94375558	NB4	blood:	n/a	n/a
49	TFAP2C	chr1:94374140-94375505	Hela-S3	cervix:	n/a	chr1:94374541-94374556
50	TAF1	chr1:94374222-94375561	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
3	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
4	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
5	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
6	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
7	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
8	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
9	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
10	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

Variant related genes	Relation type
GCLM	TF binding region
ENSG00000260464	Chromatin interaction
ENSG00000067334	Chromatin interaction
ENSG00000117505	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000211575	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	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3404764	chr1:94372564-94377162	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3426478	chr1:94373589-94376737	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:94370800-94375200	Active TSS	HMEC	breast
3	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:94372400-94375800	Active TSS	NHLF	lung
6	chr1:94372800-94376000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:94373200-94375600	Active TSS	Brain Angular Gyrus	brain
8	chr1:94373200-94375800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:94373400-94374600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:94373400-94374600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:94373400-94375800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:94373400-94375800	Active TSS	HSMMtube	muscle
13	chr1:94373600-94375400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr1:94373600-94375400	Active TSS	K562	blood
15	chr1:94373600-94375600	Active TSS	Psoas Muscle	Psoas
16	chr1:94373600-94375600	Active TSS	A549	lung
17	chr1:94373600-94375600	Active TSS	HepG2	liver
18	chr1:94373600-94375800	Active TSS	NHDF-Ad	bronchial
19	chr1:94373800-94374600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:94373800-94374600	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr1:94373800-94375400	Active TSS	Placenta	Placenta
22	chr1:94373800-94375600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:94373800-94375600	Active TSS	Right Atrium	heart
24	chr1:94373800-94375600	Active TSS	Thymus	Thymus
25	chr1:94373800-94375600	Active TSS	HSMM	muscle
26	chr1:94373800-94375800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:94373800-94375800	Active TSS	Colonic Mucosa	Colon
28	chr1:94373800-94375800	Active TSS	HUVEC	blood vessel
29	chr1:94373800-94375800	Active TSS	NH-A	brain
30	chr1:94374000-94374600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr1:94374000-94374600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:94374000-94375400	Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:94374000-94375400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:94374000-94375400	Active TSS	Small Intestine	intestine
35	chr1:94374000-94375600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:94374000-94375600	Active TSS	Fetal Intestine Large	intestine
37	chr1:94374000-94375600	Active TSS	Ovary	ovary
38	chr1:94374000-94375600	Active TSS	Right Ventricle	heart
39	chr1:94374000-94375800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:94374000-94375800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:94374000-94375800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:94374000-94375800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:94374000-94375800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:94374000-94375800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:94374000-94375800	Active TSS	Aorta	Aorta
46	chr1:94374000-94375800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:94374000-94375800	Active TSS	Fetal Muscle Trunk	muscle
48	chr1:94374000-94375800	Active TSS	NHEK	skin
49	chr1:94374000-94375800	Active TSS	Osteobl	bone
50	chr1:94374000-94376000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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