Variant report

Variant	rs16849479
Chromosome Location	chr1:165667357-165667358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165667275-165668228	HEK293	kidney:	n/a	n/a
2	SIN3AK20	chr1:165667319-165667870	PANC-1	pancreas:	n/a	n/a
3	TAF1	chr1:165667355-165668214	PFSK-1	brain:	n/a	n/a
4	NFATC1	chr1:165667298-165667823	GM12878	blood:	n/a	n/a
5	UBTF	chr1:165667038-165668154	K562	blood:	n/a	n/a
6	POLR2A	chr1:165667203-165668251	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr1:165667291-165668153	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr1:165667351-165667835	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:165667125-165668170	H1-neurons	neurons:	n/a	n/a
10	CEBPB	chr1:165667004-165668210	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:165666974-165668269	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:165667187-165668159	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:165667305-165667546	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr1:165667280-165668330	A549	lung:	n/a	n/a
15	POLR2A	chr1:165667278-165668243	MCF10A-Er-Src	breast:	n/a	n/a
16	GABPA	chr1:165667291-165667755	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:165667246-165668210	K562	blood:	n/a	n/a
18	POU2F2	chr1:165667283-165667951	GM12891	blood:	n/a	n/a
19	CTCF	chr1:165667024-165667395	IMR90	lung:	n/a	n/a
20	POLR2A	chr1:165667341-165668299	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:165667195-165668176	MCF-7	breast:	n/a	n/a
22	CHD1	chr1:165667326-165668054	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:165667253-165668230	GM12892	blood:	n/a	n/a
24	RAD21	chr1:165667027-165667512	Hela-S3	cervix:	n/a	n/a
25	MAX	chr1:165667318-165667502	K562	blood:	n/a	n/a
26	ELK1	chr1:165667286-165668212	GM12878	blood:	n/a	n/a
27	KAP1	chr1:165666907-165667691	U2OS	brain:	n/a	n/a
28	POLR2A	chr1:165667150-165668257	PFSK-1	brain:	n/a	n/a
29	FOS	chr1:165667303-165667759	HUVEC	blood vessel:	n/a	chr1:165667309-165667318
30	MAX	chr1:165667207-165668235	ECC-1	luminal epithelium:	n/a	n/a
31	GABPA	chr1:165667343-165667866	K562	blood:	n/a	n/a
32	ELF1	chr1:165667297-165667798	A549	lung:	n/a	n/a
33	POLR2A	chr1:165667307-165668226	PANC-1	pancreas:	n/a	n/a
34	ZC3H11A	chr1:165667176-165667653	K562	blood:	n/a	n/a
35	TCF12	chr1:165667269-165667962	ECC-1	luminal epithelium:	n/a	n/a
36	SIN3AK20	chr1:165667032-165667944	K562	blood:	n/a	n/a
37	CTCF	chr1:165667260-165667410	NHLF	lung:	n/a	n/a
38	POLR2A	chr1:165667293-165668241	GM12878	blood:	n/a	n/a
39	MXI1	chr1:165667285-165667750	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOXM1	chr1:165667277-165668141	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:165667336-165668132	GM10847	blood:	n/a	n/a
42	POLR2A	chr1:165667165-165668241	GM12878	blood:	n/a	n/a
43	ZNF143	chr1:165667316-165667829	Hela-S3	cervix:	n/a	n/a
44	EBF1	chr1:165667281-165667648	GM12878	blood:	n/a	n/a
45	ELF1	chr1:165667273-165668218	K562	blood:	n/a	n/a
46	REST	chr1:165667269-165668304	A549	lung:	n/a	n/a
47	CTCF	chr1:165667351-165667605	GM19240	blood:	n/a	n/a
48	ZNF143	chr1:165667203-165667757	H1-hESC	embryonic stem cell:	n/a	n/a
49	MTA3	chr1:165667023-165668249	GM12878	blood:	n/a	n/a
50	ATF2	chr1:165667283-165667778	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165666837..165669027-chr1:165796687..165798880,2	MCF-7	breast:
2	chr1:156630692..156631450-chr1:165667241..165668035,2	Hela-S3	cervix:
3	chr1:165599643..165601355-chr1:165666069..165669053,3	MCF-7	breast:
4	chr1:165599737..165602284-chr1:165666440..165669733,4	K562	blood:
5	chr1:165666145..165668955-chr1:165675306..165678474,3	K562	blood:
6	chr1:165667298..165667923-chr3:100120364..100120890,2	NB4	blood:
7	chr1:165666281..165669188-chr1:165795955..165797975,3	MCF-7	breast:
8	chr1:165600029..165602046-chr1:165667210..165669353,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215838	TF binding region
ENSG00000229953	Chromatin interaction
ENSG00000215838	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143198	Chromatin interaction
ENSG00000273365	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13376536	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 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	chr1:165665400-165668400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:165665400-165668400	Active TSS	NHLF	lung
3	chr1:165665600-165667600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:165665800-165668400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:165665800-165668400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:165665800-165668400	Active TSS	Fetal Brain Female	brain
7	chr1:165666000-165667400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:165666000-165668000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:165666000-165668400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:165666000-165668400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:165666000-165668400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:165666000-165668400	Active TSS	Right Atrium	heart
13	chr1:165666200-165668000	Active TSS	Fetal Thymus	thymus
14	chr1:165666200-165668200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:165666200-165668200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:165666200-165668200	Active TSS	Ovary	ovary
17	chr1:165666200-165668200	Active TSS	Psoas Muscle	Psoas
18	chr1:165666200-165668400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:165666200-165668400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:165666200-165668400	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:165666200-165668400	Active TSS	A549	lung
22	chr1:165666400-165668000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:165666400-165668000	Active TSS	Brain Germinal Matrix	brain
24	chr1:165666400-165668400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:165666400-165668400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:165666400-165668400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:165666400-165668400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:165666400-165668400	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:165666400-165668600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:165666600-165668000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:165666600-165668000	Active TSS	Thymus	Thymus
32	chr1:165666600-165668000	Active TSS	HMEC	breast
33	chr1:165666600-165668000	Active TSS	NHEK	skin
34	chr1:165666600-165668200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:165666600-165668400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:165666600-165668400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:165666600-165668400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:165666600-165668400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:165666600-165668400	Active TSS	Brain Cingulate Gyrus	brain
40	chr1:165666600-165668400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:165666600-165668400	Active TSS	Fetal Intestine Small	intestine
42	chr1:165666600-165668400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:165666600-165668400	Active TSS	GM12878-XiMat	blood
44	chr1:165666600-165668400	Active TSS	HSMM	muscle
45	chr1:165666600-165668400	Active TSS	HSMMtube	muscle
46	chr1:165666600-165668400	Active TSS	NHDF-Ad	bronchial
47	chr1:165666800-165667400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:165666800-165667400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr1:165666800-165667400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:165666800-165668200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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