Variant report

Variant	rs11165019
Chromosome Location	chr1:94314155-94314156
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	MAFK	chr1:94313934-94314296	HepG2	liver:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
2	MAFK	chr1:94313953-94314261	H1-hESC	embryonic stem cell:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
3	MAFK	chr1:94312898-94314419	Hela-S3	cervix:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
4	FOXA2	chr1:94313705-94314241	A549	lung:	n/a	n/a
5	MAFK	chr1:94313701-94314302	K562	blood:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
6	MAFF	chr1:94313622-94314302	HepG2	liver:	n/a	chr1:94314114-94314132
7	FOXA1	chr1:94313725-94314269	HepG2	liver:	n/a	n/a
8	RCOR1	chr1:94311012-94314184	IMR90	lung:	n/a	n/a
9	MAFF	chr1:94313779-94314292	K562	blood:	n/a	chr1:94314114-94314132
10	CTCF	chr1:94314060-94314210	AG10803	skin:	n/a	n/a
11	SREBP2	chr1:94311197-94314456	GM12878	blood:	n/a	n/a
12	KAP1	chr1:94312968-94314175	U2OS	brain:	n/a	n/a
13	GTF3C2	chr1:94312968-94314185	Hela-S3	cervix:	n/a	n/a
14	MAFK	chr1:94313636-94314317	IMR90	lung:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
15	MAFK	chr1:94313941-94314296	HepG2	liver:	n/a	chr1:94314120-94314131 chr1:94314115-94314131 chr1:94314119-94314130 chr1:94314119-94314130 chr1:94314118-94314132 chr1:94314120-94314131 chr1:94314111-94314128 chr1:94314115-94314130
16	FOXA1	chr1:94313771-94314180	HepG2	liver:	n/a	n/a
17	IRF1	chr1:94313643-94314260	K562	blood:	n/a	n/a
18	CHD1	chr1:94311055-94314618	IMR90	lung:	n/a	n/a
19	RFX5	chr1:94312678-94314235	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94032781..94034755-chr1:94312060..94314320,2	K562	blood:
2	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
3	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
4	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
5	chr1:94313358..94316025-chr1:94316812..94319394,2	MCF-7	breast:
6	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
7	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
8	chr1:94312529..94314745-chr1:94335727..94337365,2	MCF-7	breast:
9	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
10	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:
11	chr1:94224636..94227402-chr1:94312918..94314465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FNBP1L-2	chr1:94312730-94314495	ENSG00000260464.1
2	lnc-FNBP1L-2	chr1:94312708-94317158	NONHSAT004550

Variant related genes	Relation type
BCAR3	TF binding region
ENSG00000137936	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000137942	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10489605	0.81[ASN][1000 genomes]
rs10874795	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164994	0.91[ASN][1000 genomes]
rs11165001	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12076307	0.94[EUR][1000 genomes]
rs12079584	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12239830	0.97[ASN][1000 genomes]
rs17100397	0.97[ASN][1000 genomes]
rs17110394	0.96[EUR][1000 genomes]
rs17110408	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17304770	0.97[ASN][1000 genomes]
rs17878271	0.81[ASN][1000 genomes]
rs17878294	0.81[ASN][1000 genomes]
rs17881810	0.81[ASN][1000 genomes]
rs17884788	0.81[ASN][1000 genomes]
rs17885151	0.81[ASN][1000 genomes]
rs17886352	0.81[ASN][1000 genomes]
rs2223908	0.91[ASN][1000 genomes]
rs3761913	0.81[ASN][1000 genomes]
rs4526623	0.96[EUR][1000 genomes]
rs4615846	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57870303	0.91[ASN][1000 genomes]
rs61425457	0.97[ASN][1000 genomes]
rs61781054	0.91[ASN][1000 genomes]
rs61781055	0.91[ASN][1000 genomes]
rs61781056	0.91[ASN][1000 genomes]
rs61781057	0.91[ASN][1000 genomes]
rs61782162	0.81[ASN][1000 genomes]
rs61782163	0.81[ASN][1000 genomes]
rs61782164	0.81[ASN][1000 genomes]
rs61782165	0.81[ASN][1000 genomes]
rs61782398	0.91[ASN][1000 genomes]
rs61782399	0.91[ASN][1000 genomes]
rs61782400	0.91[ASN][1000 genomes]
rs61782403	0.97[ASN][1000 genomes]
rs61782404	0.97[ASN][1000 genomes]
rs61782405	0.97[ASN][1000 genomes]
rs61782410	0.97[ASN][1000 genomes]
rs61782413	0.97[ASN][1000 genomes]
rs61782449	0.87[ASN][1000 genomes]
rs61782450	0.97[ASN][1000 genomes]
rs61782451	0.91[ASN][1000 genomes]
rs61782452	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61782458	0.81[ASN][1000 genomes]
rs61782459	0.81[ASN][1000 genomes]
rs6541394	0.96[EUR][1000 genomes]
rs6660794	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6671839	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674149	0.91[ASN][1000 genomes]
rs6689215	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6689746	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703468	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717913	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723114	0.91[ASN][1000 genomes]
rs72723118	0.91[ASN][1000 genomes]
rs72723125	0.91[ASN][1000 genomes]
rs72723138	0.91[ASN][1000 genomes]
rs72723157	0.97[ASN][1000 genomes]
rs72723165	0.97[ASN][1000 genomes]
rs72723169	0.91[ASN][1000 genomes]
rs72723178	0.81[ASN][1000 genomes]
rs72967397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555914	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94311600-94314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:94311600-94314200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:94311600-94314200	Active TSS	Brain Angular Gyrus	brain
4	chr1:94311600-94314200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:94311600-94314200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:94311600-94314200	Active TSS	K562	blood
7	chr1:94311600-94314400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:94311800-94314200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:94311800-94314200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:94311800-94314200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:94311800-94314200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:94311800-94314200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:94311800-94314200	Active TSS	Fetal Muscle Leg	muscle
14	chr1:94311800-94314200	Active TSS	Fetal Stomach	stomach
15	chr1:94311800-94314200	Active TSS	GM12878-XiMat	blood
16	chr1:94311800-94314200	Active TSS	NHLF	lung
17	chr1:94311800-94314400	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:94313000-94314200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:94313200-94314200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:94313600-94314200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:94313600-94314200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr1:94313600-94314200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:94313600-94314200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:94313600-94314200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:94313600-94314200	Flanking Active TSS	Liver	Liver
26	chr1:94313600-94314200	Flanking Active TSS	HUVEC	blood vessel
27	chr1:94313600-94314400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:94313600-94314400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:94313800-94314200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:94313800-94314200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:94313800-94314200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:94313800-94314200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr1:94313800-94314200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:94313800-94314200	Flanking Active TSS	Fetal Kidney	kidney
35	chr1:94313800-94314200	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr1:94313800-94314200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:94313800-94314200	Enhancers	Stomach Mucosa	stomach
38	chr1:94313800-94314200	Flanking Active TSS	A549	lung
39	chr1:94313800-94314400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:94313800-94314400	Flanking Active TSS	Dnd41	blood
41	chr1:94313800-94314400	Flanking Active TSS	Hela-S3	cervix
42	chr1:94313800-94314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:94314000-94314200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:94314000-94314200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:94314000-94314200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr1:94314000-94314200	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:94314000-94314200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:94314000-94314200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:94314000-94314200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:94314000-94314200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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