Variant report

Variant	rs587655284
Chromosome Location	chr1:120254514-120254515
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	MAX	chr1:120254238-120255247	SK-N-SH	brain:	n/a	n/a
2	MAX	chr1:120254247-120256250	ECC-1	luminal epithelium:	n/a	chr1:120255932-120255951 chr1:120255937-120255947 chr1:120255936-120255946 chr1:120255935-120255948 chr1:120255935-120255950 chr1:120255935-120255948 chr1:120255936-120255947 chr1:120255810-120255820 chr1:120255938-120255947 chr1:120255933-120255948 chr1:120255935-120255945 chr1:120255937-120255946 chr1:120255418-120255427 chr1:120255935-120255948 chr1:120255937-120255947 chr1:120255936-120255947 chr1:120255936-120255945 chr1:120255936-120255946
3	E2F6	chr1:120254336-120254949	A549	lung:	n/a	chr1:120254856-120254865 chr1:120254928-120254940
4	STAT3	chr1:120254413-120254613	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr1:120254305-120255644	HepG2	liver:	n/a	chr1:120255418-120255427
6	NFIC	chr1:120254385-120254727	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:120254325-120255609	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:120254413-120254875	GM12878	blood:	n/a	n/a
9	YY1	chr1:120254386-120255220	ECC-1	luminal epithelium:	n/a	chr1:120254710-120254727
10	CEBPB	chr1:120254159-120256664	Hela-S3	cervix:	n/a	chr1:120254423-120254434
11	POLR2A	chr1:120254361-120255660	GM12892	blood:	n/a	n/a
12	NFIC	chr1:120254242-120255653	ECC-1	luminal epithelium:	n/a	n/a
13	NFYB	chr1:120254263-120254757	Hela-S3	cervix:	n/a	chr1:120254481-120254495
14	POLR2A	chr1:120254352-120256946	HepG2	liver:	n/a	n/a
15	ZKSCAN1	chr1:120254424-120256484	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:120254343-120256730	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:120254119-120256795	PFSK-1	brain:	n/a	n/a
18	HMGN3	chr1:120254289-120256449	K562	blood:	n/a	n/a
19	TBP	chr1:120254344-120254755	K562	blood:	n/a	n/a
20	POLR2A	chr1:120254292-120254983	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:120254329-120257606	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr1:120254353-120254828	A549	lung:	n/a	n/a
23	POLR2A	chr1:120254470-120254673	A549	lung:	n/a	n/a
24	TAF1	chr1:120254270-120255681	ECC-1	luminal epithelium:	n/a	n/a
25	CHD1	chr1:120254177-120256969	H1-hESC	embryonic stem cell:	n/a	chr1:120255487-120255497 chr1:120254931-120254941 chr1:120256615-120256622
26	POLR2A	chr1:120254265-120254783	SK-N-MC	brain:	n/a	n/a
27	ARID3A	chr1:120254222-120254721	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:120254300-120256667	U87	brain:	n/a	n/a
29	POLR2A	chr1:120254413-120254819	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:120254365-120255678	GM19099	blood:	n/a	n/a
31	MYC	chr1:120254245-120256249	K562	blood:	n/a	chr1:120255932-120255951 chr1:120255937-120255947 chr1:120255936-120255946 chr1:120255935-120255948 chr1:120255935-120255950 chr1:120255935-120255948 chr1:120255936-120255947 chr1:120255810-120255820 chr1:120255938-120255947 chr1:120255933-120255948 chr1:120255935-120255945 chr1:120255937-120255946 chr1:120255418-120255427 chr1:120255935-120255948 chr1:120255937-120255947 chr1:120255936-120255947 chr1:120255936-120255945 chr1:120255936-120255946
32	MYC	chr1:120254260-120256347	NB4	blood:	n/a	chr1:120255932-120255951 chr1:120255937-120255947 chr1:120255936-120255946 chr1:120255935-120255948 chr1:120255935-120255950 chr1:120255935-120255948 chr1:120255936-120255947 chr1:120255810-120255820 chr1:120255938-120255947 chr1:120255933-120255948 chr1:120255935-120255945 chr1:120255937-120255946 chr1:120255418-120255427 chr1:120255935-120255948 chr1:120255937-120255947 chr1:120255936-120255947 chr1:120255936-120255945 chr1:120255936-120255946
33	POLR2A	chr1:120254217-120256575	PANC-1	pancreas:	n/a	n/a
34	CHD2	chr1:120254206-120255633	Hela-S3	cervix:	n/a	chr1:120255487-120255497 chr1:120254931-120254941
35	MXI1	chr1:120254121-120256475	IMR90	lung:	n/a	chr1:120255938-120255947 chr1:120255936-120255945 chr1:120254807-120254822
36	CEBPB	chr1:120254277-120254519	HepG2	liver:	n/a	chr1:120254423-120254434
37	POLR2A	chr1:120254341-120257325	K562	blood:	n/a	n/a
38	GTF2F1	chr1:120254279-120254752	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr1:120254327-120256086	Hela-S3	cervix:	n/a	chr1:120255932-120255951 chr1:120255937-120255947 chr1:120255936-120255946 chr1:120255935-120255948 chr1:120255935-120255950 chr1:120255935-120255948 chr1:120255936-120255947 chr1:120255810-120255820 chr1:120255938-120255947 chr1:120255933-120255948 chr1:120255937-120255946 chr1:120255418-120255427 chr1:120255935-120255948 chr1:120255937-120255947 chr1:120255936-120255947 chr1:120255936-120255945 chr1:120255936-120255946
40	FOS	chr1:120254288-120254611	MCF10A-Er-Src	breast:	n/a	n/a
41	RFX5	chr1:120254246-120255797	Hela-S3	cervix:	n/a	n/a
42	REST	chr1:120254495-120254769	PANC-1	pancreas:	n/a	n/a
43	BHLHE40	chr1:120254425-120255573	K562	blood:	n/a	n/a
44	POLR2A	chr1:120254330-120256479	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:120254235-120254619	HepG2	liver:	n/a	chr1:120254423-120254434
46	ZNF143	chr1:120254497-120254770	K562	blood:	n/a	n/a
47	E2F4	chr1:120254294-120255212	Hela-S3	cervix:	n/a	chr1:120254856-120254865 chr1:120254928-120254940
48	CTCF	chr1:120254500-120254650	BE2_C	brain:	n/a	n/a
49	MBD4	chr1:120254238-120254761	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:120254424-120254807	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
2	chr1:120254449..120255374-chr3:25705936..25706569,2	Hela-S3	cervix:
3	chr1:120253275..120257099-chr1:120276679..120281090,4	K562	blood:
4	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:

Variant related genes	Relation type
PHGDH	TF binding region
ENSG00000143067	Chromatin interaction
ENSG00000077097	Chromatin interaction
ENSG00000264219	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv3417273	chr1:120254479-120256427	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120254000-120254600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:120254200-120254600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr1:120254200-120254600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:120254200-120254600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
5	chr1:120254200-120254600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:120254200-120254600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:120254200-120254600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:120254200-120254600	Active TSS	Colonic Mucosa	Colon
9	chr1:120254200-120254600	Active TSS	Psoas Muscle	Psoas
10	chr1:120254200-120254600	Active TSS	Right Atrium	heart
11	chr1:120254200-120254800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr1:120254200-120254800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:120254200-120254800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:120254200-120254800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:120254200-120254800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:120254200-120254800	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:120254200-120255000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:120254200-120255000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr1:120254200-120255000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:120254200-120255000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr1:120254200-120255000	Flanking Active TSS	Liver	Liver
22	chr1:120254200-120255000	Active TSS	Fetal Heart	heart
23	chr1:120254200-120255000	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr1:120254200-120255000	Flanking Active TSS	HUVEC	blood vessel
25	chr1:120254200-120255000	Flanking Active TSS	K562	blood
26	chr1:120254200-120255200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:120254200-120255200	Bivalent/Poised TSS	HepG2	liver
28	chr1:120254200-120255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:120254200-120255400	Active TSS	Primary T cells from cord blood	blood
30	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:120254200-120255400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:120254200-120255400	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:120254200-120255400	Active TSS	A549	lung
34	chr1:120254200-120255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:120254200-120255600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:120254200-120255600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:120254200-120255600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:120254200-120255600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr1:120254200-120255600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:120254200-120255600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:120254200-120255600	Active TSS	Brain Germinal Matrix	brain
42	chr1:120254200-120255600	Active TSS	Fetal Brain Female	brain
43	chr1:120254200-120255600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:120254200-120255600	Active TSS	Fetal Lung	lung
45	chr1:120254200-120255600	Active TSS	Fetal Stomach	stomach
46	chr1:120254200-120255600	Active TSS	Thymus	Thymus
47	chr1:120254200-120255600	Active TSS	HSMM	muscle
48	chr1:120254200-120255600	Active TSS	NH-A	brain
49	chr1:120254200-120255600	Active TSS	Osteobl	bone
50	chr1:120254200-120255800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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