Variant report

Variant	rs61172065
Chromosome Location	chr16:70319994-70319995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
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	POLR2A	chr16:70317754-70320032	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:70319560-70320084	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70319672-70320051	HCT-116	colon:	n/a	n/a
4	POLR2A	chr16:70319692-70320048	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70319808-70320008	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70319789-70320258	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:70318458-70320026	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:70319637-70320448	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr16:70318370-70320608	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70319890..70322761-chr16:70339573..70342006,2	K562	blood:
2	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
3	chr16:70299010..70300610-chr16:70319177..70321457,2	K562	blood:
4	chr16:70302704..70305268-chr16:70318422..70320250,2	K562	blood:
5	chr16:70297512..70300510-chr16:70319177..70321494,2	K562	blood:
6	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
7	chr16:70194744..70197032-chr16:70317749..70321532,3	K562	blood:
8	chr16:70285551..70287334-chr16:70318169..70320584,3	K562	blood:

No data

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000168872	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000265230	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000223496	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs11537667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859191	0.81[AMR][1000 genomes]
rs11859257	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859730	0.90[AMR][1000 genomes]
rs11859827	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860870	0.96[AFR][1000 genomes]
rs11860922	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861097	0.81[AMR][1000 genomes]
rs11862053	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862188	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970147	0.84[AFR][1000 genomes]
rs16970361	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970609	0.94[AFR][1000 genomes]
rs2869156	1.00[AMR][1000 genomes]
rs3972037	0.89[AMR][1000 genomes]
rs3972075	0.90[AMR][1000 genomes]
rs55657328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55805938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55819743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936739	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55963712	0.81[AMR][1000 genomes]
rs55965002	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55971559	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043981	0.94[AFR][1000 genomes]
rs56051513	0.90[AMR][1000 genomes]
rs56090000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096542	0.92[AFR][1000 genomes]
rs56217164	0.94[AFR][1000 genomes]
rs56234537	0.94[AFR][1000 genomes]
rs57279408	0.94[AFR][1000 genomes]
rs57320283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57422630	0.84[AFR][1000 genomes]
rs57623576	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58055772	0.84[AFR][1000 genomes]
rs58131227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58319566	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.87[AFR][1000 genomes]
rs59384897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59612351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59769732	1.00[AMR][1000 genomes]
rs59791510	0.94[AFR][1000 genomes]
rs59849898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.87[AFR][1000 genomes]
rs60103946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60426209	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60463946	1.00[AMR][1000 genomes]
rs60523557	0.94[AFR][1000 genomes]
rs60567469	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60841206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61391917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61594809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499307	0.81[AMR][1000 genomes]
rs6499309	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7184248	0.92[AFR][1000 genomes]
rs7185665	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189535	0.81[AMR][1000 genomes]
rs7190921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195567	0.94[AFR][1000 genomes]
rs7198871	0.81[AMR][1000 genomes]
rs7204800	0.92[AFR][1000 genomes]
rs7205871	0.92[AFR][1000 genomes]
rs7205990	0.84[AFR][1000 genomes]
rs74024172	0.90[AMR][1000 genomes]
rs74024176	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024177	1.00[AMR][1000 genomes]
rs74024180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024182	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024183	0.81[AMR][1000 genomes]
rs74024184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024187	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024199	0.94[AFR][1000 genomes]
rs74024200	0.94[AFR][1000 genomes]
rs8044699	0.90[AMR][1000 genomes]
rs8045571	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045769	0.90[AMR][1000 genomes]
rs8046280	0.90[AFR][1000 genomes]
rs8046662	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051869	0.87[AFR][1000 genomes]
rs8053040	0.94[AFR][1000 genomes]
rs8055675	0.81[AMR][1000 genomes]
rs8056196	0.81[AMR][1000 genomes]
rs8063749	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:70286000-70320400	Strong transcription	Osteobl	bone
7	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
11	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
16	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:70286400-70320000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr16:70286400-70320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:70286400-70320400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr16:70287200-70321800	Weak transcription	Right Atrium	heart
21	chr16:70287400-70320000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:70288600-70320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:70290200-70321600	Strong transcription	Fetal Intestine Small	intestine
24	chr16:70290600-70320600	Strong transcription	HepG2	liver
25	chr16:70306600-70320000	Strong transcription	HMEC	breast
26	chr16:70309800-70320400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:70310200-70320000	Strong transcription	NHEK	skin
28	chr16:70311000-70322600	Weak transcription	Fetal Heart	heart
29	chr16:70311400-70321800	Weak transcription	Fetal Brain Male	brain
30	chr16:70311600-70321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:70311600-70322800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr16:70312000-70320000	Strong transcription	Fetal Brain Female	brain
33	chr16:70313000-70321400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:70314400-70322200	Weak transcription	Small Intestine	intestine
35	chr16:70314800-70321800	Weak transcription	Psoas Muscle	Psoas
36	chr16:70315000-70321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr16:70315400-70322200	Weak transcription	Gastric	stomach
38	chr16:70315600-70321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70315800-70322400	Weak transcription	Esophagus	oesophagus
40	chr16:70316000-70321400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:70316000-70321400	Weak transcription	Spleen	Spleen
42	chr16:70316000-70321400	Weak transcription	HUVEC	blood vessel
43	chr16:70316200-70320000	Strong transcription	HSMM	muscle
44	chr16:70316600-70321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:70316600-70321600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr16:70316800-70321400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr16:70316800-70321600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:70316800-70322200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr16:70317000-70321400	Weak transcription	Stomach Mucosa	stomach
50	chr16:70317000-70322200	Weak transcription	Primary B cells from cord blood	blood

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