Variant report

Variant	rs11150400
Chromosome Location	chr16:81734238-81734239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81733902-81734488	U87	brain:	n/a	n/a
2	POLR2A	chr16:81731594-81737662	K562	blood:	n/a	n/a
3	POLR2A	chr16:81734107-81734265	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:81734207-81734416	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:81734088-81734536	HL-60	blood:	n/a	n/a
6	FOSL2	chr16:81733886-81734510	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:81734091-81734677	K562	blood:	n/a	n/a
8	POLR2A	chr16:81733713-81734383	A549	lung:	n/a	n/a
9	POLR2A	chr16:81734001-81734333	U87	brain:	n/a	n/a
10	POLR2A	chr16:81732666-81734390	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:81734154-81734633	K562	blood:	n/a	n/a
12	POLR2A	chr16:81734147-81735159	K562	blood:	n/a	n/a
13	POLR2A	chr16:81733958-81735301	K562	blood:	n/a	n/a
14	POLR2A	chr16:81733992-81734333	U87	brain:	n/a	n/a
15	POLR2A	chr16:81734136-81735963	A549	lung:	n/a	n/a
16	POLR2A	chr16:81732989-81735264	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81727343..81729891-chr16:81732559..81735043,3	K562	blood:
2	chr16:81732199..81735143-chr16:81738317..81740566,2	K562	blood:
3	chr16:81726984..81731246-chr16:81732450..81737036,4	MCF-7	breast:
4	chr16:81666216..81667716-chr16:81733418..81735896,2	K562	blood:
5	chr16:81731022..81732663-chr16:81734009..81736117,2	K562	blood:
6	chr16:81653358..81655294-chr16:81733619..81735225,2	K562	blood:

No data

Variant related genes	Relation type
CMIP	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11641014	0.94[ASN][1000 genomes]
rs11642818	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11644560	0.89[ASN][1000 genomes]
rs11646472	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11647444	0.87[EUR][1000 genomes]
rs2317497	0.92[ASN][1000 genomes]
rs2873480	0.95[ASN][1000 genomes]
rs3751857	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4281702	0.92[ASN][1000 genomes]
rs4421970	0.90[ASN][1000 genomes]
rs4423411	0.91[ASN][1000 genomes]
rs4888165	0.95[ASN][1000 genomes]
rs4888167	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889363	0.81[ASN][1000 genomes]
rs4889364	0.94[ASN][1000 genomes]
rs4889365	0.94[ASN][1000 genomes]
rs4889366	0.90[ASN][1000 genomes]
rs55669104	0.87[ASN][1000 genomes]
rs57869567	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60107344	0.94[ASN][1000 genomes]
rs68056614	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72831113	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74031237	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74031241	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753108	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8055386	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
2	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
4	chr16:81721800-81748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:81722000-81738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:81724000-81743400	Strong transcription	HepG2	liver
7	chr16:81724400-81745800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81724600-81743400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:81724600-81746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:81724800-81736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:81724800-81740600	Strong transcription	Gastric	stomach
12	chr16:81724800-81741400	Strong transcription	Liver	Liver
13	chr16:81724800-81743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:81724800-81743400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr16:81724800-81743400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:81724800-81743400	Strong transcription	Dnd41	blood
17	chr16:81724800-81744400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr16:81724800-81744600	Strong transcription	Primary T cells from cord blood	blood
19	chr16:81725000-81744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:81725000-81744600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr16:81725000-81746000	Strong transcription	Thymus	Thymus
22	chr16:81725200-81743200	Strong transcription	Primary B cells from cord blood	blood
23	chr16:81725600-81739600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr16:81725600-81741200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:81725800-81748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:81727200-81740600	Weak transcription	Hela-S3	cervix
27	chr16:81727800-81736800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:81728000-81735000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:81728000-81738000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:81728000-81738600	Weak transcription	Aorta	Aorta
31	chr16:81728000-81741000	Strong transcription	Placenta	Placenta
32	chr16:81728200-81734600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:81728200-81736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:81728200-81738400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:81729000-81735600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:81729000-81736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:81729600-81735600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:81729600-81735800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr16:81729600-81736800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:81730200-81734800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:81730400-81736200	Strong transcription	Ovary	ovary
42	chr16:81730400-81740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:81730600-81736400	Weak transcription	HSMM	muscle
44	chr16:81730600-81737000	Strong transcription	NHEK	skin
45	chr16:81730600-81739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:81730800-81735200	Weak transcription	Left Ventricle	heart
47	chr16:81730800-81737000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:81730800-81737000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:81730800-81737000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:81731000-81734800	Weak transcription	Colon Smooth Muscle	Colon

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