Variant report

Variant	rs61559998
Chromosome Location	chr16:71493663-71493664
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	POLR2A	chr16:71493557-71493705	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr16:71493442-71493752	HepG2	liver:	n/a	chr16:71493590-71493601 chr16:71493590-71493601 chr16:71493589-71493603 chr16:71493586-71493601 chr16:71493591-71493602 chr16:71493586-71493602 chr16:71493591-71493602
3	MAFK	chr16:71493552-71493704	HepG2	liver:	n/a	chr16:71493590-71493601 chr16:71493590-71493601 chr16:71493589-71493603 chr16:71493586-71493601 chr16:71493591-71493602 chr16:71493586-71493602 chr16:71493591-71493602
4	MAFF	chr16:71493477-71493714	HepG2	liver:	n/a	n/a
5	MAFK	chr16:71493483-71493743	IMR90	lung:	n/a	chr16:71493590-71493601 chr16:71493590-71493601 chr16:71493589-71493603 chr16:71493586-71493601 chr16:71493591-71493602 chr16:71493586-71493602 chr16:71493591-71493602

No.	Distal block	Cell Line	Cell type
1	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
2	chr16:71463484..71466764-chr16:71493078..71496827,4	MCF-7	breast:
3	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
4	chr16:71322248..71324099-chr16:71492926..71495428,2	K562	blood:
5	chr16:71493295..71494894-chr16:71504109..71506023,2	MCF-7	breast:
6	chr16:71492931..71495476-chr16:71534966..71536593,2	K562	blood:
7	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
8	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
9	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
10	chr16:71482210..71487712-chr16:71492894..71496267,8	K562	blood:

Variant related genes	Relation type
ZNF23	TF binding region
ENSG00000247324	TF binding region
ENSG00000167377	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000260734	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000180917	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	0.93[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	0.93[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]
rs56996503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60009511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7201189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202726	1.00[AMR][1000 genomes]
rs8051376	1.00[AMR][1000 genomes]
rs8054498	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8060844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061512	0.91[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
2	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
3	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:71486800-71494400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:71487200-71493800	Weak transcription	Fetal Brain Male	brain
6	chr16:71487200-71494200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:71487200-71494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:71487200-71495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:71487200-71495400	Weak transcription	Stomach Mucosa	stomach
10	chr16:71487600-71494800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:71487600-71494800	Weak transcription	K562	blood
12	chr16:71487800-71493800	Weak transcription	Dnd41	blood
13	chr16:71487800-71494600	Weak transcription	Hela-S3	cervix
14	chr16:71487800-71494800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:71488000-71494400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:71488000-71494800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr16:71488000-71495000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:71488000-71495400	Weak transcription	Fetal Thymus	thymus
19	chr16:71488200-71495400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:71488600-71495400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:71489000-71493800	Weak transcription	HMEC	breast
22	chr16:71489000-71495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:71489000-71495400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:71489200-71493800	Weak transcription	HepG2	liver
25	chr16:71489200-71495200	Weak transcription	Thymus	Thymus
26	chr16:71489400-71495200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:71489600-71495400	Weak transcription	Small Intestine	intestine
28	chr16:71489800-71495400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:71490200-71494000	Weak transcription	NHEK	skin
30	chr16:71490200-71494200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:71490200-71494800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:71490200-71495200	Weak transcription	Fetal Kidney	kidney
33	chr16:71490400-71493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:71490400-71494400	Weak transcription	Primary B cells from cord blood	blood
35	chr16:71490400-71494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:71490400-71495200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr16:71490400-71495400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr16:71490400-71495400	Weak transcription	Placenta	Placenta
39	chr16:71490600-71494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:71490600-71494600	Weak transcription	Adipose Nuclei	Adipose
41	chr16:71490600-71494600	Weak transcription	A549	lung
42	chr16:71490600-71494800	Weak transcription	Primary T cells from cord blood	blood
43	chr16:71490600-71495000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr16:71490600-71495000	Weak transcription	Right Ventricle	heart
45	chr16:71490600-71495200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:71490600-71495200	Weak transcription	Brain Angular Gyrus	brain
47	chr16:71490600-71495200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:71490600-71495200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:71490600-71495400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:71490600-71495400	Weak transcription	Colonic Mucosa	Colon

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