Variant report

Variant	rs45527638
Chromosome Location	chr14:70236600-70236601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70236138-70236795	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:70236159-70236786	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:70236177-70236807	K562	blood:	n/a	n/a
4	MXI1	chr14:70236460-70236660	K562	blood:	n/a	n/a
5	POLR2A	chr14:70236259-70236706	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:70236287-70236756	H1-hESC	embryonic stem cell:	n/a	n/a
7	WRNIP1	chr14:70236494-70236729	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:70236201-70236815	K562	blood:	n/a	n/a
9	POLR2A	chr14:70236182-70236728	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:70236464-70236739	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:70236145-70238420	K562	blood:	n/a	n/a
12	POLR2A	chr14:70233373-70249048	K562	blood:	n/a	n/a
13	POLR2A	chr14:70236079-70236816	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr14:70236140-70236826	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:70236236-70249267	IMR90	lung:	n/a	n/a
16	POLR2A	chr14:70236202-70236761	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:70236578-70236897	U87	brain:	n/a	n/a
18	POLR2A	chr14:70236219-70236760	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:70236207-70236684	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr14:70236132-70236834	GM12892	blood:	n/a	n/a
21	POLR2A	chr14:70236197-70236713	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr14:70233152-70236900	GM12878	blood:	n/a	n/a
23	POLR2A	chr14:70233726-70236740	A549	lung:	n/a	n/a
24	POLR2A	chr14:70236460-70236710	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:70233258-70236927	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:70236087-70236916	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:70236194-70236715	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:70236483-70236702	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:70236121-70236801	GM12891	blood:	n/a	n/a
30	POLR2A	chr14:70233167-70236754	GM12891	blood:	n/a	n/a
31	POLR2A	chr14:70233605-70249548	HepG2	liver:	n/a	n/a
32	CHD1	chr14:70233097-70242136	IMR90	lung:	n/a	chr14:70234450-70234459
33	POLR2A	chr14:70236094-70236813	GM12892	blood:	n/a	n/a
34	POLR2A	chr14:70236583-70236650	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr14:70236110-70236760	MCF-7	breast:	n/a	n/a
36	POLR2A	chr14:70236060-70236845	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:70236103-70236835	GM12891	blood:	n/a	n/a
38	HEY1	chr14:70236289-70236788	K562	blood:	n/a	n/a
39	POLR2A	chr14:70236178-70236739	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:70236136-70236758	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:70236538-70236897	U87	brain:	n/a	n/a
42	POLR2A	chr14:70236200-70236703	K562	blood:	n/a	n/a
43	POLR2A	chr14:70233250-70236806	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:70236279-70236851	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:70233277-70241975	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69864148..69866880-chr14:70234778..70237310,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000100632	Chromatin interaction
ENSG00000029364	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10130174	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145643	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623504	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11626135	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626930	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628140	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11628646	0.97[EUR][1000 genomes]
rs11628755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11629222	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12431918	0.92[EUR][1000 genomes]
rs12434311	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12434937	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107282	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28488181	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595072	0.97[EUR][1000 genomes]
rs2877596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340264	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4341691	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56063215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56154784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982072	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs61982074	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61982101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982104	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61982105	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982106	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61982107	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7159823	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725721	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725750	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8013586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014462	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8018389	0.97[EUR][1000 genomes]
rs8019166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020042	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943276	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943277	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70233800-70236600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr14:70233800-70236800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:70233800-70236800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
4	chr14:70233800-70237600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr14:70234000-70236600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr14:70234000-70236800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr14:70234200-70236800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
8	chr14:70234400-70236800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:70234600-70236600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:70234600-70236800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:70234600-70237200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:70234600-70237400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:70234800-70236600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:70234800-70236600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
15	chr14:70234800-70236600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
16	chr14:70234800-70236600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
17	chr14:70234800-70236600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
18	chr14:70234800-70236800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:70234800-70236800	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
20	chr14:70234800-70236800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
21	chr14:70234800-70236800	Transcr. at gene 5' and 3'	Hela-S3	cervix
22	chr14:70234800-70236800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
23	chr14:70234800-70236800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
24	chr14:70234800-70237000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr14:70234800-70237200	Transcr. at gene 5' and 3'	Placenta	Placenta
26	chr14:70234800-70237800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr14:70234800-70238200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
28	chr14:70235000-70236600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:70235000-70236600	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:70235000-70236600	Transcr. at gene 5' and 3'	NHLF	lung
31	chr14:70235000-70236800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
32	chr14:70235000-70236800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
33	chr14:70235000-70236800	Genic enhancers	Small Intestine	intestine
34	chr14:70235000-70237000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:70235000-70237200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
36	chr14:70235200-70236600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
37	chr14:70235200-70236600	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
38	chr14:70235200-70236600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
39	chr14:70235200-70236800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:70235400-70236600	Genic enhancers	H9 Cell Line	embryonic stem cell
41	chr14:70235400-70236800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr14:70235400-70236800	Genic enhancers	Fetal Stomach	stomach
43	chr14:70235400-70237600	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr14:70235400-70237600	Genic enhancers	Gastric	stomach
45	chr14:70235400-70238200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:70235400-70241200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:70235400-70248200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:70235600-70236800	Genic enhancers	Stomach Mucosa	stomach
49	chr14:70235600-70236800	Genic enhancers	Spleen	Spleen
50	chr14:70235600-70237200	Weak transcription	Placenta Amnion	Placenta Amnion

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