Variant report

Variant	rs17101758
Chromosome Location	chr14:24645964-24645965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24645507-24654398	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24645854-24646227	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:24645940-24646328	K562	blood:	n/a	n/a
4	POLR2A	chr14:24645807-24649310	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:24643556-24655637	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24645881-24646021	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:24645791-24646258	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:24645581-24646305	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:24645840-24646986	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr14:24645688-24646381	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:24645562-24647616	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr14:24645859-24652944	A549	lung:	n/a	n/a
13	POLR2A	chr14:24645751-24646343	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:24645820-24646136	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr14:24645707-24646232	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr14:24645463-24653158	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:24645768-24646426	GM12892	blood:	n/a	n/a
18	POLR2A	chr14:24645814-24647476	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:24645466-24654781	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:24645779-24646340	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr14:24645909-24653058	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24645572-24653154	GM12891	blood:	n/a	n/a
23	POLR2A	chr14:24645740-24646306	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:24645768-24647229	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:24645684-24649217	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24645871-24647475	K562	blood:	n/a	n/a
27	POLR2A	chr14:24645747-24646248	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:24645756-24646309	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:24645955-24649521	K562	blood:	n/a	n/a
30	POLR2A	chr14:24645602-24646312	GM12891	blood:	n/a	n/a
31	POLR2A	chr14:24645767-24646163	A549	lung:	n/a	n/a
32	POLR2A	chr14:24645535-24654723	GM12892	blood:	n/a	n/a
33	POLR2A	chr14:24645580-24654794	GM12891	blood:	n/a	n/a
34	POLR2A	chr14:24643055-24653064	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24644916..24647133-chr14:24681211..24683281,2	MCF-7	breast:
2	chr14:24631619..24637585-chr14:24644952..24647499,6	K562	blood:
3	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
4	chr14:24633156..24635332-chr14:24644913..24646452,2	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
ENSG00000213928	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000254692	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10131288	1.00[ASN][1000 genomes]
rs10132189	1.00[ASN][1000 genomes]
rs10136993	1.00[ASN][1000 genomes]
rs10140260	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142080	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142310	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143943	1.00[ASN][1000 genomes]
rs10144791	1.00[ASN][1000 genomes]
rs10146665	1.00[ASN][1000 genomes]
rs28373297	1.00[EUR][1000 genomes]
rs28396996	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28435365	1.00[ASN][1000 genomes]
rs28533649	1.00[ASN][1000 genomes]
rs28589355	1.00[ASN][1000 genomes]
rs28636804	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470080	1.00[ASN][1000 genomes]
rs7151467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005722	1.00[ASN][1000 genomes]
rs8008047	1.00[ASN][1000 genomes]
rs8011199	1.00[ASN][1000 genomes]
rs8012049	1.00[ASN][1000 genomes]
rs8019514	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1804053	chr14:24642785-24660721	Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
7	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:24637000-24648000	Weak transcription	HSMM	muscle
9	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
10	chr14:24637200-24646000	Weak transcription	HepG2	liver
11	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
12	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:24641200-24647800	Strong transcription	Liver	Liver
15	chr14:24641400-24647600	Weak transcription	Psoas Muscle	Psoas
16	chr14:24641400-24648200	Weak transcription	Left Ventricle	heart
17	chr14:24641400-24656000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:24641600-24646000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:24641600-24646000	Weak transcription	Ovary	ovary
20	chr14:24641600-24646200	Weak transcription	Esophagus	oesophagus
21	chr14:24641600-24648400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:24641600-24648600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:24641600-24656600	Strong transcription	Placenta	Placenta
24	chr14:24641600-24656800	Weak transcription	Right Atrium	heart
25	chr14:24641800-24646000	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:24641800-24646200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:24641800-24647800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:24641800-24648000	Weak transcription	NHDF-Ad	bronchial
29	chr14:24641800-24649600	Weak transcription	HUVEC	blood vessel
30	chr14:24641800-24653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:24641800-24656400	Strong transcription	Adipose Nuclei	Adipose
32	chr14:24642000-24646000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:24642000-24646000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:24642000-24647000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:24642000-24648000	Weak transcription	Fetal Lung	lung
36	chr14:24642000-24648800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:24642000-24656200	Strong transcription	Lung	lung
38	chr14:24642200-24646000	Weak transcription	Right Ventricle	heart
39	chr14:24642200-24647000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:24642200-24648200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:24642200-24650200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr14:24642200-24654600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:24642200-24656000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:24642200-24656000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:24642400-24646000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:24642400-24646000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:24642400-24648000	Weak transcription	A549	lung
48	chr14:24642400-24648600	Weak transcription	Fetal Heart	heart
49	chr14:24642400-24656400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:24642600-24646000	Weak transcription	NH-A	brain

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