Variant report

Variant	rs1862818
Chromosome Location	chr16:71391868-71391869
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	CTCF	chr16:71391860-71392010	AG09319	gingival:	n/a	n/a
2	CTCF	chr16:71391772-71391927	NHEK	skin:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
3	RAD21	chr16:71391538-71393051	HCT-116	colon:	n/a	chr16:71392849-71392859 chr16:71391835-71391854 chr16:71392849-71392861 chr16:71392553-71392567 chr16:71392549-71392568
4	SMC3	chr16:71391774-71391936	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr16:71391820-71391970	A549	lung:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
6	CTCF	chr16:71391758-71391927	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
7	CTCF	chr16:71391740-71391890	BE2_C	brain:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
8	CTCF	chr16:71391642-71392066	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
9	CTCF	chr16:71391820-71391970	HRE	kidney:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
10	RAD21	chr16:71391508-71392038	H1-hESC	embryonic stem cell:	n/a	chr16:71391835-71391854
11	CTCF	chr16:71391740-71391890	HCPEpiC	choroid plexus:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
12	CTCF	chr16:71391780-71391930	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
13	CTCF	chr16:71391823-71391874	H1-hESC	embryonic stem cell:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
14	CTCF	chr16:71391798-71392007	GM12878	blood:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
15	RAD21	chr16:71391707-71391930	HepG2	liver:	n/a	chr16:71391835-71391854
16	CTCF	chr16:71391740-71391890	K562	blood:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
17	CTCF	chr16:71391784-71391917	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
18	CTCF	chr16:71391800-71391950	HBMEC	blood vessel:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
19	CTCF	chr16:71391840-71391990	A549	lung:	n/a	n/a
20	CTCF	chr16:71391748-71391974	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
21	CTCF	chr16:71391840-71391990	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr16:71391760-71391910	HRE	kidney:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
23	CTCF	chr16:71391410-71392996	A549	lung:	n/a	chr16:71392551-71392569 chr16:71392553-71392566 chr16:71392846-71392859 chr16:71392556-71392569 chr16:71392552-71392568 chr16:71391837-71391855 chr16:71391839-71391852 chr16:71392546-71392567 chr16:71392553-71392566
24	CTCF	chr16:71391840-71391990	HFF	foreskin:	n/a	n/a
25	RAD21	chr16:71391561-71392896	HCT-116	colon:	n/a	chr16:71392849-71392859 chr16:71391835-71391854 chr16:71392849-71392861 chr16:71392553-71392567 chr16:71392549-71392568
26	RAD21	chr16:71391299-71392083	H1-hESC	embryonic stem cell:	n/a	chr16:71391835-71391854
27	CTCF	chr16:71391720-71391870	HepG2	liver:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
28	CTCF	chr16:71391816-71391919	Fibrobl	skin:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
29	CTCF	chr16:71391800-71391950	WERI-Rb-1	eye:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
30	CTCF	chr16:71391744-71391933	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
31	CTCF	chr16:71391740-71391890	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
32	CTCF	chr16:71391760-71391910	HRPEpiC	eye:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
33	CTCF	chr16:71391762-71391925	HepG2	liver:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
34	CTCF	chr16:71391744-71391923	MCF-7	breast:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
35	RAD21	chr16:71391578-71393012	SK-N-SH	brain:	n/a	chr16:71392849-71392859 chr16:71391835-71391854 chr16:71392849-71392861 chr16:71392553-71392567 chr16:71392549-71392568
36	RAD21	chr16:71391747-71391915	SK-N-SH_RA	brain:	n/a	chr16:71391835-71391854
37	CTCF	chr16:71391820-71391970	Caco-2	colon:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
38	CTCF	chr16:71391767-71391893	K562	blood:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
39	CTCF	chr16:71391740-71391890	HRPEpiC	eye:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
40	CTCF	chr16:71391760-71391910	SAEC	small airway:	n/a	chr16:71391837-71391855 chr16:71391839-71391852
41	CTCF	chr16:71391815-71391872	A549	lung:	n/a	chr16:71391837-71391855 chr16:71391839-71391852

No.	Distal block	Cell Line	Cell type
1	chr16:71322881..71323537-chr16:71391312..71392129,2	MCF-7	breast:
2	chr16:71033324..71034616-chr16:71390965..71391955,3	MCF-7	breast:
3	chr16:71345865..71348331-chr16:71390071..71392582,2	MCF-7	breast:

Variant related genes	Relation type
CALB2	TF binding region
ENSG00000180917	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11642316	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544064	0.92[AFR][1000 genomes]
rs35635213	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839403	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv572949	chr16:71352071-71426563	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71386000-71392000	Weak transcription	NHEK	skin
2	chr16:71391400-71392000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr16:71391400-71392200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:71391400-71392200	Enhancers	Adipose Nuclei	Adipose
5	chr16:71391400-71392200	Bivalent Enhancer	Fetal Brain Female	brain
6	chr16:71391400-71392600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:71391400-71393000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr16:71391600-71392000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr16:71391600-71392000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:71391600-71392000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:71391600-71392000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr16:71391600-71392200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr16:71391600-71392200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:71391600-71392200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr16:71391600-71392200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr16:71391600-71392200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:71391600-71392200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:71391600-71392200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:71391600-71392200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr16:71391600-71392200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr16:71391600-71392200	Enhancers	Pancreas	Pancrea
22	chr16:71391600-71392200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr16:71391600-71392200	Bivalent Enhancer	HepG2	liver
24	chr16:71391600-71392400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:71391600-71392400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr16:71391600-71392400	Enhancers	K562	blood
27	chr16:71391600-71392600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:71391600-71392600	Enhancers	Lung	lung
29	chr16:71391600-71393000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr16:71391600-71393200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr16:71391600-71394800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:71391600-71395000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:71391800-71392000	Enhancers	Rectal Smooth Muscle	rectum
34	chr16:71391800-71392000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr16:71391800-71392200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:71391800-71392200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:71391800-71392200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:71391800-71392200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr16:71391800-71392200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:71391800-71392200	Bivalent Enhancer	Brain Anterior Caudate	brain
41	chr16:71391800-71392200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr16:71391800-71392200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr16:71391800-71392400	Flanking Active TSS	A549	lung
44	chr16:71391800-71392600	Active TSS	Brain Cingulate Gyrus	brain
45	chr16:71391800-71392800	Enhancers	Esophagus	oesophagus
46	chr16:71391800-71393000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr16:71391800-71393000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr16:71391800-71393000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr16:71391800-71393000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr16:71391800-71393000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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