Variant report

Variant	rs8054498
Chromosome Location	chr16:71513665-71513666
allele	C/T
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	TEAD4	chr16:71513252-71513774	K562	blood:	n/a	n/a
2	GATA1	chr16:71513206-71514043	PBDE	blood:	n/a	chr16:71513587-71513608 chr16:71513594-71513603 chr16:71513593-71513603 chr16:71513590-71513606 chr16:71513594-71513601
3	RAD21	chr16:71513229-71513730	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr16:71513161-71513774	HCT-116	colon:	n/a	n/a
5	RCOR1	chr16:71513368-71513682	K562	blood:	n/a	n/a
6	MXI1	chr16:71513144-71513887	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr16:71513301-71513673	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr16:71513196-71513734	MCF-7	breast:	n/a	chr16:71513477-71513495
9	CTCF	chr16:71513233-71513741	A549	lung:	n/a	chr16:71513477-71513495
10	CTCF	chr16:71513250-71513744	MCF-7	breast:	n/a	chr16:71513477-71513495
11	CTCF	chr16:71513335-71513688	K562	blood:	n/a	chr16:71513477-71513495
12	ZNF384	chr16:71513364-71513690	K562	blood:	n/a	n/a
13	CTCF	chr16:71513131-71513678	SK-N-SH	brain:	n/a	chr16:71513477-71513495
14	RAD21	chr16:71513211-71513699	MCF-7	breast:	n/a	n/a
15	MAX	chr16:71513308-71513667	K562	blood:	n/a	n/a
16	MAX	chr16:71513340-71513708	K562	blood:	n/a	n/a
17	CTCF	chr16:71513279-71513675	HepG2	liver:	n/a	chr16:71513477-71513495
18	EP300	chr16:71513454-71513669	K562	blood:	n/a	n/a
19	CTCF	chr16:71513300-71513669	GM12878	blood:	n/a	chr16:71513477-71513495
20	CTCF	chr16:71513296-71513669	H1-hESC	embryonic stem cell:	n/a	chr16:71513477-71513495
21	CTCF	chr16:71513222-71513689	HCT-116	colon:	n/a	chr16:71513477-71513495
22	RAD21	chr16:71513191-71513786	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr16:71513195-71513686	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr16:71513309-71513734	HCT-116	colon:	n/a	n/a
25	STAT1	chr16:71513324-71513808	Hela-S3	cervix:	n/a	chr16:71513534-71513545
26	RAD21	chr16:71513293-71513668	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr16:71513211-71513680	HepG2	liver:	n/a	n/a
28	CTCF	chr16:71513281-71513703	K562	blood:	n/a	chr16:71513477-71513495
29	RAD21	chr16:71513311-71513667	HepG2	liver:	n/a	n/a
30	RAD21	chr16:71513198-71513733	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71513056..71513974-chr16:71533394..71534305,2	K562	blood:
2	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
3	chr16:71513426..71514058-chr16:71533450..71534331,2	MCF-7	breast:
4	chr16:71513442..71514238-chr16:71576080..71576808,3	MCF-7	breast:
5	chr16:71513429..71513931-chr16:71571103..71571771,2	K562	blood:

Variant related genes	Relation type
ZNF19	TF binding region
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10500556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859416	1.00[AMR][1000 genomes]
rs11861972	1.00[AMR][1000 genomes]
rs16970857	1.00[AMR][1000 genomes]
rs16973164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2004142	1.00[AMR][1000 genomes]
rs2040652	1.00[AMR][1000 genomes]
rs2158104	1.00[AMR][1000 genomes]
rs4297683	0.82[AFR][1000 genomes]
rs56996503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60009511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61559998	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7201189	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202726	1.00[AMR][1000 genomes]
rs8060844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061512	0.98[AFR][1000 genomes];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	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
3	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:71502800-71517400	Weak transcription	Dnd41	blood
5	chr16:71506400-71517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:71507200-71514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr16:71507200-71517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:71507400-71517800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:71507600-71517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:71507600-71517400	Weak transcription	Fetal Brain Male	brain
11	chr16:71508400-71517600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:71508400-71517600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:71508800-71517800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:71509600-71517600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:71509800-71517800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:71509800-71517800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:71510000-71517600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:71510000-71517800	Weak transcription	Esophagus	oesophagus
19	chr16:71510200-71517600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:71510200-71518000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:71510600-71517600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr16:71510600-71517600	Weak transcription	NHEK	skin
23	chr16:71510600-71517800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:71510600-71518000	Weak transcription	Gastric	stomach
25	chr16:71510800-71517400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:71510800-71517600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr16:71510800-71518000	Weak transcription	Small Intestine	intestine
28	chr16:71511000-71514000	Weak transcription	HSMMtube	muscle
29	chr16:71511000-71517400	Weak transcription	NHDF-Ad	bronchial
30	chr16:71511200-71517600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:71511200-71517600	Weak transcription	HMEC	breast
32	chr16:71511200-71517800	Weak transcription	NH-A	brain
33	chr16:71511400-71517800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr16:71511800-71517400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:71511800-71517400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:71511800-71517600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:71511800-71517600	Weak transcription	HUVEC	blood vessel
38	chr16:71512000-71517200	Weak transcription	GM12878-XiMat	blood
39	chr16:71512000-71517400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:71512000-71517400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:71512000-71517400	Weak transcription	Psoas Muscle	Psoas
42	chr16:71512200-71515400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:71512200-71517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:71512200-71518000	Weak transcription	Placenta	Placenta
45	chr16:71512400-71517400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:71512400-71517400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:71512400-71517400	Weak transcription	A549	lung
48	chr16:71512400-71517800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:71512600-71515400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:71512600-71517400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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