Variant report

Variant	rs34616731
Chromosome Location	chr14:64929287-64929288
allele	A/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	POLR2A	chr14:64929177-64931093	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:64927628-64931783	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:64928093-64929363	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:64929084-64929290	K562	blood:	n/a	n/a
5	POLR2A	chr14:64929049-64929542	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:64928654-64932081	K562	blood:	n/a	n/a
7	POLR2A	chr14:64929128-64930240	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64853247..64855757-chr14:64927977..64929851,2	MCF-7	breast:
2	chr14:64927345..64929769-chr14:64971489..64974207,3	MCF-7	breast:
3	chr14:64927965..64930102-chr14:64970842..64972801,2	K562	blood:

Variant related genes	Relation type
ENSG00000272828	TF binding region
AKAP5	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10138919	0.82[EUR][1000 genomes]
rs1040612	0.82[EUR][1000 genomes]
rs10431708	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158546	0.81[EUR][1000 genomes]
rs1256140	0.83[AMR][1000 genomes]
rs1256141	0.83[AMR][1000 genomes]
rs1256146	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1256148	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256150	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12886478	0.88[AFR][1000 genomes]
rs12894050	0.81[EUR][1000 genomes]
rs12894807	0.81[EUR][1000 genomes]
rs1453005	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1901737	0.82[AMR][1000 genomes]
rs2038270	0.82[EUR][1000 genomes]
rs2218994	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2602156	0.84[AFR][1000 genomes]
rs35262226	0.81[AFR][1000 genomes]
rs35872489	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902287	0.85[AMR][1000 genomes]
rs4902288	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4902295	0.83[EUR][1000 genomes]
rs4902296	0.83[EUR][1000 genomes]
rs4902297	0.83[EUR][1000 genomes]
rs4902298	0.83[EUR][1000 genomes]
rs7148289	0.83[EUR][1000 genomes]
rs7149152	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156953	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs761547	0.82[EUR][1000 genomes]
rs8016170	0.83[EUR][1000 genomes]
rs8016361	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8017407	0.81[EUR][1000 genomes]
rs8018169	0.83[EUR][1000 genomes]
rs8022447	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][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	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
2	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:64867200-64929600	Strong transcription	Dnd41	blood
4	chr14:64877000-64929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:64910600-64931200	Weak transcription	Fetal Heart	heart
8	chr14:64911200-64931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:64911800-64931400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:64912200-64929600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:64912400-64930200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:64912600-64929600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:64913400-64929600	Strong transcription	Fetal Stomach	stomach
14	chr14:64913800-64931200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:64915000-64931000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:64915400-64929800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:64915400-64931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:64917400-64930800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:64920000-64929600	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:64920800-64931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:64921000-64931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:64921000-64931200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:64921600-64929800	Strong transcription	Liver	Liver
24	chr14:64921600-64931400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:64921800-64930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:64921800-64931400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:64922200-64931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:64922200-64931200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:64922200-64931200	Weak transcription	Spleen	Spleen
30	chr14:64922200-64931400	Weak transcription	Colonic Mucosa	Colon
31	chr14:64922200-64931400	Weak transcription	Lung	lung
32	chr14:64922400-64931400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:64922400-64931400	Weak transcription	Brain Substantia Nigra	brain
34	chr14:64922600-64931200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:64922600-64931400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:64922800-64931400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:64922800-64931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:64923000-64930600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:64923000-64931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:64923000-64931200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:64923000-64931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:64923000-64931400	Weak transcription	Aorta	Aorta
43	chr14:64923000-64931400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:64923000-64931400	Weak transcription	Fetal Brain Male	brain
45	chr14:64923000-64931400	Weak transcription	Fetal Kidney	kidney
46	chr14:64923000-64931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:64923000-64931400	Weak transcription	HSMMtube	muscle
48	chr14:64923000-64931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:64923000-64931600	Weak transcription	Pancreas	Pancrea
50	chr14:64923000-64931800	Weak transcription	Esophagus	oesophagus

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