Variant report

Variant	rs16844881
Chromosome Location	chr1:225617075-225617076
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	JUN	chr1:225611820-225617257	K562	blood:	n/a	chr1:225613227-225613237 chr1:225616567-225616575 chr1:225615250-225615261 chr1:225616568-225616575 chr1:225612971-225612983 chr1:225616565-225616577 chr1:225613226-225613238 chr1:225613227-225613237 chr1:225613228-225613236 chr1:225616567-225616575 chr1:225615989-225615998 chr1:225612930-225612939 chr1:225613227-225613237 chr1:225616648-225616657 chr1:225615862-225615871 chr1:225616566-225616576
2	NR2F2	chr1:225615687-225617135	K562	blood:	n/a	n/a
3	BACH1	chr1:225615683-225617104	K562	blood:	n/a	chr1:225616564-225616578
4	TEAD4	chr1:225615490-225617186	K562	blood:	n/a	n/a
5	POLR2A	chr1:225615397-225617274	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:225615473-225617208	GM12891	blood:	n/a	n/a
7	TAL1	chr1:225615537-225617166	K562	blood:	n/a	chr1:225616022-225616040
8	ARID3A	chr1:225616010-225617112	K562	blood:	n/a	chr1:225616711-225616727 chr1:225616712-225616728 chr1:225616543-225616559 chr1:225616544-225616560
9	POLR2A	chr1:225613874-225617283	Hela-S3	cervix:	n/a	n/a
10	RELA	chr1:225615622-225617211	GM18505	blood:	n/a	n/a
11	MAFF	chr1:225616131-225617134	K562	blood:	n/a	chr1:225616558-225616576
12	CREB1	chr1:225615544-225617202	K562	blood:	n/a	n/a
13	ZNF384	chr1:225615851-225617082	GM12878	blood:	n/a	n/a
14	CUX1	chr1:225615984-225617090	K562	blood:	n/a	n/a
15	MAFK	chr1:225615964-225617114	K562	blood:	n/a	chr1:225616561-225616581 chr1:225616560-225616575 chr1:225616565-225616574 chr1:225616561-225616572 chr1:225616560-225616571 chr1:225616561-225616572 chr1:225616565-225616575 chr1:225616560-225616571
16	POLR2A	chr1:225615107-225617228	GM19099	blood:	n/a	n/a
17	ZNF384	chr1:225615623-225617301	K562	blood:	n/a	n/a
18	JUND	chr1:225615588-225617099	K562	blood:	n/a	chr1:225616567-225616575 chr1:225616568-225616575 chr1:225616565-225616577 chr1:225616567-225616575 chr1:225615989-225615998 chr1:225616648-225616657 chr1:225616565-225616576 chr1:225615862-225615871 chr1:225616566-225616576
19	EP300	chr1:225615631-225617165	K562	blood:	n/a	chr1:225616879-225616893 chr1:225616361-225616377 chr1:225615943-225615959 chr1:225616566-225616575 chr1:225616832-225616846
20	GATA1	chr1:225614472-225617124	PBDE	blood:	n/a	chr1:225616023-225616040 chr1:225616022-225616029
21	EP300	chr1:225616412-225617090	Hela-S3	cervix:	n/a	chr1:225616879-225616893 chr1:225616566-225616575 chr1:225616832-225616846
22	POLR2A	chr1:225613808-225617160	PBDE	blood:	n/a	n/a
23	MYC	chr1:225613726-225617110	K562	blood:	n/a	chr1:225616368-225616378 chr1:225614720-225614727 chr1:225616566-225616575 chr1:225614718-225614728 chr1:225615632-225615642
24	TBL1XR1	chr1:225615771-225617095	K562	blood:	n/a	n/a
25	RCOR1	chr1:225614408-225617098	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225617030-225617080	Caco-2	colon:	n/a
2	chr1:225617030-225617080	HEEpiC	esophagus:	n/a
3	chr1:225617030-225617080	IMR90	lung:	fetal
4	chr1:225617030-225617080	HRCEpiC	kidney:	n/a
5	chr1:225617030-225617080	HepG2	liver:	n/a
6	chr1:225617030-225617080	HIPEpiC	eye:	n/a
7	chr1:225617030-225617080	K562	blood:	n/a
8	chr1:225617030-225617080	RPTEC	kidney:	n/a
9	chr1:225617030-225617080	GM19239	blood:	n/a
10	chr1:225617030-225617080	ECC-1	luminal epithelium:	n/a
11	chr1:225617030-225617080	AG09319	gingival:	n/a
12	chr1:225617030-225617080	GM06990	blood:	n/a
13	chr1:225617030-225617080	NH-A	brain:	n/a
14	chr1:225617030-225617080	U87	brain:	n/a
15	chr1:225617030-225617080	BE2_C	brain:	n/a
16	chr1:225617030-225617080	HL-60	blood:	n/a
17	chr1:225617030-225617080	H1-hESC	embryonic stem cell:	embryo
18	chr1:225617030-225617080	Jurkat	blood:	n/a
19	chr1:225617030-225617080	NHDF-neo	bronchial:	n/a
20	chr1:225617030-225617080	GM12878	blood:	n/a
21	chr1:225617030-225617080	AoSMC	blood vessel:	n/a
22	chr1:225617030-225617080	PFSK-1	brain:	n/a
23	chr1:225617030-225617080	LNCaP	prostate:	n/a
24	chr1:225617030-225617080	Hela-S3	cervix:	n/a
25	chr1:225617030-225617080	CMK	blood:	n/a
26	chr1:225617030-225617080	NT2-D1	testis:	n/a
27	chr1:225617030-225617080	T-47D	breast:	n/a
28	chr1:225617030-225617080	GM12891	blood:	n/a
29	chr1:225617030-225617080	SK-N-SH_RA	brain:	n/a
30	chr1:225617030-225617080	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:225617030-225617080	HCF	heart:	n/a
32	chr1:225617030-225617080	HNPCEpiC	eye:	n/a
33	chr1:225617030-225617080	MCF-7	breast:	n/a
34	chr1:225617030-225617080	HUVEC	blood vessel:	n/a
35	chr1:225617030-225617080	HAEpiC	amniotic membrane:	n/a
36	chr1:225617030-225617080	HEK293	kidney:	embryo
37	chr1:225617030-225617080	NHBE	bronchial:	n/a
38	chr1:225617030-225617080	SAEC	small airway:	n/a
39	chr1:225617030-225617080	NB4	blood:	n/a
40	chr1:225617030-225617080	PrEC	prostate:	n/a
41	chr1:225617030-225617080	HMEC	breast:	n/a
42	chr1:225617030-225617080	AG04450	lung:	fetal
43	chr1:225617030-225617080	ProgFib	skin:	n/a
44	chr1:225617030-225617080	A549	lung:	n/a
45	chr1:225617030-225617080	MCF10A-Er-Src	breast:	n/a
46	chr1:225617030-225617080	AG04449	skin:	fetal
47	chr1:225617030-225617080	ovcar-3	ovarian:	n/a
48	chr1:225617030-225617080	HCPEpiC	choroid plexus:	n/a
49	chr1:225617030-225617080	HCT-116	colon:	n/a
50	chr1:225617030-225617080	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225616757..225618444-chr1:225653517..225655559,2	K562	blood:
2	chr1:225607872..225610815-chr1:225614150..225617627,4	MCF-7	breast:

Variant related genes	Relation type
LBR	TF binding region
LBR	CpG island
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16844879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16844898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16844899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3342670	chr1:225614754-225617302	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225614200-225617200	Active TSS	NHLF	lung
2	chr1:225615200-225617200	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr1:225615600-225617200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:225615600-225617200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:225616200-225617200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:225616200-225617200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:225616200-225617200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:225616200-225617200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:225616400-225617200	Flanking Active TSS	Dnd41	blood
10	chr1:225616600-225617200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:225616600-225617200	Flanking Active TSS	A549	lung
12	chr1:225616600-225617200	Flanking Active TSS	Hela-S3	cervix
13	chr1:225616600-225617200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:225616600-225618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:225616600-225618800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:225616600-225622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:225616800-225617200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:225616800-225617200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr1:225616800-225617200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:225616800-225617200	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:225616800-225617200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:225616800-225617200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:225616800-225617200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:225616800-225617200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:225616800-225617200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:225616800-225617200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:225616800-225617200	Enhancers	Liver	Liver
28	chr1:225616800-225617200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:225616800-225617200	Enhancers	Fetal Thymus	thymus
30	chr1:225616800-225617200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:225616800-225617200	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:225616800-225617200	Flanking Active TSS	K562	blood
33	chr1:225616800-225617200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr1:225616800-225618400	Enhancers	Colon Smooth Muscle	Colon
35	chr1:225617000-225617200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:225617000-225617200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr1:225617000-225617200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:225617000-225617200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:225617000-225617200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:225617000-225617200	Enhancers	Primary B cells from cord blood	blood
41	chr1:225617000-225617200	Enhancers	Primary T cells from cord blood	blood
42	chr1:225617000-225617200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr1:225617000-225617200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:225617000-225617200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:225617000-225617200	Enhancers	Adipose Nuclei	Adipose
46	chr1:225617000-225617200	Enhancers	Duodenum Mucosa	Duodenum
47	chr1:225617000-225617200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:225617000-225617200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr1:225617000-225617200	Enhancers	Thymus	Thymus
50	chr1:225617000-225617200	Enhancers	HepG2	liver

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