Variant report

Variant	rs8058886
Chromosome Location	chr16:48191245-48191246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:48190458-48191586	IMR90	lung:	n/a	n/a
2	RAD21	chr16:48190397-48191426	SK-N-SH	brain:	n/a	chr16:48190824-48190838 chr16:48190824-48190834 chr16:48190823-48190836 chr16:48190820-48190839
3	CTCF	chr16:48190368-48191408	SK-N-SH	brain:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
4	CTCF	chr16:48191240-48191390	BJ	skin:	n/a	n/a
5	SMC3	chr16:48190331-48191274	SK-N-SH	brain:	n/a	chr16:48190824-48190834 chr16:48190824-48190838
6	CTCF	chr16:48190354-48191613	A549	lung:	n/a	chr16:48190823-48190839 chr16:48190822-48190840 chr16:48190817-48190838 chr16:48190825-48190835 chr16:48190828-48190837 chr16:48190824-48190837
7	STAT3	chr16:48191108-48191252	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr16:48191120-48191270	SAEC	small airway:	n/a	n/a
9	CTCF	chr16:48191200-48191350	GM12873	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48191219-48191269	HUVEC	blood vessel:	n/a
2	chr16:48191219-48191269	SK-N-SH_RA	brain:	n/a
3	chr16:48191219-48191269	NHDF-neo	bronchial:	n/a
4	chr16:48191219-48191269	IMR90	lung:	fetal
5	chr16:48191219-48191269	HCM	heart:	n/a
6	chr16:48191219-48191269	ProgFib	skin:	n/a
7	chr16:48191219-48191269	LNCaP	prostate:	n/a
8	chr16:48191219-48191269	BJ	skin:	n/a
9	chr16:48191219-48191269	SK-N-MC	brain:	n/a
10	chr16:48191219-48191269	HRCEpiC	kidney:	n/a
11	chr16:48191219-48191269	HepG2	liver:	n/a
12	chr16:48191219-48191269	NT2-D1	testis:	n/a
13	chr16:48191219-48191269	K562	blood:	n/a
14	chr16:48191219-48191269	HCF	heart:	n/a
15	chr16:48191219-48191269	ovcar-3	ovarian:	n/a
16	chr16:48191219-48191269	BE2_C	brain:	n/a
17	chr16:48191219-48191269	SK-N-SH	brain:	n/a
18	chr16:48191219-48191269	GM12891	blood:	n/a
19	chr16:48191219-48191269	AoSMC	blood vessel:	n/a
20	chr16:48191219-48191269	SAEC	small airway:	n/a
21	chr16:48191219-48191269	HNPCEpiC	eye:	n/a
22	chr16:48191219-48191269	MCF-7	breast:	n/a
23	chr16:48191219-48191269	HRE	kidney:	n/a
24	chr16:48191219-48191269	PrEC	prostate:	n/a
25	chr16:48191219-48191269	AG09309	skin:	n/a
26	chr16:48191219-48191269	Hela-S3	cervix:	n/a
27	chr16:48191219-48191269	HAEpiC	amniotic membrane:	n/a
28	chr16:48191219-48191269	A549	lung:	n/a
29	chr16:48191219-48191269	U87	brain:	n/a
30	chr16:48191219-48191269	MCF10A-Er-Src	breast:	n/a
31	chr16:48191219-48191269	T-47D	breast:	n/a
32	chr16:48191219-48191269	Hepatocyte	liver:	n/a
33	chr16:48191219-48191269	NH-A	brain:	n/a
34	chr16:48191219-48191269	ECC-1	luminal epithelium:	n/a
35	chr16:48191219-48191269	AG04450	lung:	fetal
36	chr16:48191219-48191269	SKMC	muscle:	n/a
37	chr16:48191219-48191269	AG10803	skin:	n/a
38	chr16:48191219-48191269	AG09319	gingival:	n/a
39	chr16:48191219-48191269	Jurkat	blood:	n/a
40	chr16:48191219-48191269	PANC-1	pancreas:	n/a
41	chr16:48191219-48191269	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:48191219-48191269	HEK293	kidney:	embryo
43	chr16:48191219-48191269	HMEC	breast:	n/a
44	chr16:48191219-48191269	HRPEpiC	eye:	n/a
45	chr16:48191219-48191269	CMK	blood:	n/a
46	chr16:48191219-48191269	HEEpiC	esophagus:	n/a
47	chr16:48191219-48191269	Caco-2	colon:	n/a
48	chr16:48191219-48191269	AG04449	skin:	fetal
49	chr16:48191219-48191269	NB4	blood:	n/a
50	chr16:48191219-48191269	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48151128..48152237-chr16:48190393..48191453,6	MCF-7	breast:
2	chr16:48160028..48160849-chr16:48189962..48191269,4	MCF-7	breast:
3	chr16:47070704..47073411-chr16:48190590..48192237,2	K562	blood:
4	chr16:47071429..47072310-chr16:48190272..48191310,4	K562	blood:

No data

Variant related genes	Relation type
ABCC12	TF binding region
ABCC12	CpG island

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16945914	1.00[YRI][hapmap]
rs17821664	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs41280941	0.90[AFR][1000 genomes]
rs58219806	0.95[AFR][1000 genomes]
rs60297142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187887	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8043902	0.90[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48189600-48193200	Enhancers	A549	lung
2	chr16:48190400-48192800	Enhancers	HMEC	breast
3	chr16:48190600-48192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:48190800-48191400	Enhancers	Hela-S3	cervix
5	chr16:48190800-48191800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:48190800-48191800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:48190800-48191800	Weak transcription	NH-A	brain
8	chr16:48190800-48192000	Weak transcription	HSMM	muscle
9	chr16:48190800-48192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:48190800-48192200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:48190800-48192200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:48190800-48192200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:48190800-48192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:48190800-48192800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:48190800-48192800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:48190800-48192800	Enhancers	NHEK	skin
17	chr16:48190800-48194400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:48191000-48192000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:48191000-48192000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:48191000-48192200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:48191000-48192200	Weak transcription	NHLF	lung
22	chr16:48191000-48198800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:48191000-48199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:48191200-48192800	Enhancers	GM12878-XiMat	blood

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