Variant report

Variant	rs7159982
Chromosome Location	chr14:68265616-68265617
allele	A/C
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	chr14:68265614-68266236	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr14:68265606-68265872	K562	blood:	n/a	n/a
3	POLR2A	chr14:68265570-68266130	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:68265587-68265808	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:68265592-68265807	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr14:68265490-68265924	K562	blood:	n/a	n/a
7	POLR2A	chr14:68265550-68265802	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:68265569-68265806	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000258759	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10131048	0.85[EUR][1000 genomes]
rs10132318	0.86[EUR][1000 genomes]
rs10135927	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10141638	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10150007	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483805	0.85[EUR][1000 genomes]
rs11158693	0.85[EUR][1000 genomes]
rs11158694	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158695	0.85[EUR][1000 genomes]
rs11621019	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626590	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626769	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586329	0.84[EUR][1000 genomes]
rs12588401	0.85[EUR][1000 genomes]
rs12886915	0.85[EUR][1000 genomes]
rs12891047	0.85[EUR][1000 genomes]
rs12891164	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892221	0.85[EUR][1000 genomes]
rs12893157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896666	0.85[EUR][1000 genomes]
rs1543391	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783094	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810523	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181561	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181562	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181563	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs181564	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181565	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181566	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs181567	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181570	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181572	0.88[EUR][1000 genomes]
rs181574	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181575	0.86[EUR][1000 genomes]
rs181576	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955470	0.85[EUR][1000 genomes]
rs1964828	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235962	0.85[EUR][1000 genomes]
rs2235963	0.85[EUR][1000 genomes]
rs2235965	0.84[EUR][1000 genomes]
rs2235966	0.90[EUR][1000 genomes]
rs2235967	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295105	0.80[ASN][1000 genomes]
rs2295106	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295107	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295108	0.84[EUR][1000 genomes]
rs2874131	0.85[EUR][1000 genomes]
rs2874132	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759521	0.80[ASN][1000 genomes]
rs35272075	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4143685	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284565	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569184	0.85[EUR][1000 genomes]
rs4902517	0.85[EUR][1000 genomes]
rs4902518	0.84[EUR][1000 genomes]
rs4902519	0.85[EUR][1000 genomes]
rs55854324	1.00[ASN][1000 genomes]
rs55867043	0.87[ASN][1000 genomes]
rs7142433	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143196	1.00[ASN][1000 genomes]
rs7143496	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149482	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159109	0.80[EUR][1000 genomes]
rs7159622	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160196	0.89[EUR][1000 genomes]
rs72723196	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723202	1.00[ASN][1000 genomes]
rs72725103	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725114	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs767972	0.85[EUR][1000 genomes]
rs8004611	1.00[ASN][1000 genomes]
rs8011120	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012974	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:68213800-68280600	Strong transcription	Liver	Liver
6	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
10	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
11	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:68226800-68280800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:68229200-68272800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:68229200-68281200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:68229800-68281000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:68230800-68280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:68231600-68280800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:68232200-68279600	Strong transcription	Fetal Intestine Large	intestine
32	chr14:68232400-68267000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr14:68232600-68280000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:68232800-68276800	Strong transcription	Fetal Intestine Small	intestine
35	chr14:68232800-68280800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:68233800-68280800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:68233800-68280800	Strong transcription	Placenta	Placenta
38	chr14:68234200-68280200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:68234600-68278000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:68234600-68280200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:68237800-68277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:68252200-68280400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:68252600-68277800	Strong transcription	Left Ventricle	heart
44	chr14:68252800-68277800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:68253400-68267800	Weak transcription	K562	blood
46	chr14:68254600-68281000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:68255200-68276000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:68257600-68268800	Weak transcription	Psoas Muscle	Psoas
49	chr14:68258600-68266800	Strong transcription	Lung	lung
50	chr14:68259000-68266800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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