Variant report

Variant	rs55818207
Chromosome Location	chr14:67880835-67880836
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	MAZ	chr14:67880810-67881340	K562	blood:	n/a	chr14:67881048-67881057
2	TAF1	chr14:67880831-67881243	Hela-S3	cervix:	n/a	n/a
3	FOSL1	chr14:67880835-67881307	K562	blood:	n/a	chr14:67881026-67881037 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881047-67881054 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
4	FOS	chr14:67880804-67881399	K562	blood:	n/a	chr14:67881373-67881383 chr14:67881026-67881037 chr14:67881028-67881036 chr14:67881047-67881058 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
5	POLR2A	chr14:67880638-67881274	Hela-S3	cervix:	n/a	n/a
6	FOS	chr14:67880482-67881570	MCF10A-Er-Src	breast:	n/a	chr14:67881373-67881383 chr14:67881026-67881037 chr14:67881028-67881036 chr14:67881047-67881058 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
7	STAT3	chr14:67880458-67881372	MCF10A-Er-Src	breast:	n/a	chr14:67881048-67881057 chr14:67881049-67881058 chr14:67881226-67881238 chr14:67881060-67881072 chr14:67880953-67880964
8	JUN	chr14:67880820-67881546	HUVEC	blood vessel:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
9	NFIC	chr14:67880609-67881271	ECC-1	luminal epithelium:	n/a	n/a
10	GATA2	chr14:67880769-67881831	HUVEC	blood vessel:	n/a	chr14:67881047-67881056 chr14:67881427-67881437 chr14:67881429-67881436 chr14:67881426-67881438 chr14:67881429-67881436 chr14:67881375-67881384 chr14:67881050-67881059 chr14:67881429-67881436
11	STAT3	chr14:67880458-67881342	MCF10A-Er-Src	breast:	n/a	chr14:67881048-67881057 chr14:67881049-67881058 chr14:67881226-67881238 chr14:67881060-67881072 chr14:67880953-67880964
12	CHD2	chr14:67880497-67881407	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:67880692-67881472	U87	brain:	n/a	n/a
14	TCF7L2	chr14:67880440-67881336	Hela-S3	cervix:	n/a	n/a
15	JUND	chr14:67880513-67881633	HCT-116	colon:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881026-67881037 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
16	ZBTB33	chr14:67880756-67881266	HCT-116	colon:	n/a	n/a
17	MAX	chr14:67880503-67881371	Hela-S3	cervix:	n/a	chr14:67881048-67881057
18	TCF12	chr14:67880743-67881438	SK-N-SH	brain:	n/a	n/a
19	GABPA	chr14:67880806-67881332	A549	lung:	n/a	n/a
20	SMARCC1	chr14:67880816-67881406	Hela-S3	cervix:	n/a	chr14:67881373-67881382 chr14:67881028-67881037
21	FOS	chr14:67880568-67881556	MCF10A-Er-Src	breast:	n/a	chr14:67881373-67881383 chr14:67881026-67881037 chr14:67881028-67881036 chr14:67881047-67881058 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
22	MAZ	chr14:67880368-67881433	Hela-S3	cervix:	n/a	chr14:67881048-67881057
23	TFAP2A	chr14:67880401-67881390	Hela-S3	cervix:	n/a	chr14:67880661-67880676 chr14:67881373-67881382 chr14:67881065-67881077
24	ELF1	chr14:67880808-67881283	K562	blood:	n/a	n/a
25	ATF3	chr14:67880831-67881290	K562	blood:	n/a	chr14:67881043-67881057
26	STAT3	chr14:67880436-67881522	MCF10A-Er-Src	breast:	n/a	chr14:67881048-67881057 chr14:67881049-67881058 chr14:67881226-67881238 chr14:67881060-67881072 chr14:67880953-67880964
27	JUND	chr14:67880784-67881570	K562	blood:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881026-67881037 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
28	STAT3	chr14:67880482-67881009	MCF10A-Er-Src	breast:	n/a	chr14:67880953-67880964
29	JUND	chr14:67880754-67881363	SK-N-SH	brain:	n/a	chr14:67881028-67881036 chr14:67881026-67881037 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881047-67881054 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
30	POLR2A	chr14:67880539-67881338	HCT-116	colon:	n/a	n/a
31	SP1	chr14:67880393-67881762	HCT-116	colon:	n/a	chr14:67881183-67881195 chr14:67881183-67881195 chr14:67881186-67881200 chr14:67881180-67881194 chr14:67881184-67881193 chr14:67881191-67881200
32	JUND	chr14:67880813-67881624	SK-N-SH	brain:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881026-67881037 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
33	RFX5	chr14:67880679-67881403	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr14:67880451-67881490	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr14:67880762-67881278	U87	brain:	n/a	n/a
36	POLR2A	chr14:67880817-67881278	U87	brain:	n/a	n/a
37	JUND	chr14:67880829-67881333	A549	lung:	n/a	chr14:67881028-67881036 chr14:67881026-67881037 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881047-67881054 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
38	TCF12	chr14:67880703-67881351	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr14:67880754-67881290	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr14:67880684-67881524	A549	lung:	n/a	chr14:67881047-67881056 chr14:67881427-67881437 chr14:67881429-67881436 chr14:67881426-67881438 chr14:67881429-67881436 chr14:67881375-67881384 chr14:67881050-67881059 chr14:67881429-67881436
41	FOSL2	chr14:67880669-67881581	A549	lung:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881084-67881095 chr14:67881373-67881383 chr14:67881046-67881057 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
42	JUN	chr14:67880650-67881557	Hela-S3	cervix:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
43	FOSL1	chr14:67880398-67881671	HCT-116	colon:	n/a	chr14:67881373-67881383 chr14:67881026-67881037 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881047-67881058 chr14:67881373-67881383 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
44	RCOR1	chr14:67880777-67881389	K562	blood:	n/a	n/a
45	GTF2F1	chr14:67880513-67881655	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:67880358-67881478	HCT-116	colon:	n/a	n/a
47	FOSL2	chr14:67880791-67881422	SK-N-SH	brain:	n/a	chr14:67881373-67881383 chr14:67881028-67881036 chr14:67881049-67881057 chr14:67881047-67881059 chr14:67881373-67881383 chr14:67881373-67881383 chr14:67881029-67881040 chr14:67881084-67881095 chr14:67881373-67881383 chr14:67881046-67881057 chr14:67881047-67881054 chr14:67881373-67881382 chr14:67881026-67881038 chr14:67881050-67881057 chr14:67881049-67881058
48	RCOR1	chr14:67880572-67881595	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr14:67880718-67881353	HCT-116	colon:	n/a	n/a
50	GATA1	chr14:67880521-67882159	PBDE	blood:	n/a	chr14:67881047-67881056 chr14:67881427-67881437 chr14:67881429-67881436 chr14:67881426-67881438 chr14:67881429-67881436 chr14:67881375-67881384 chr14:67881050-67881059 chr14:67881429-67881436

No.	Distal block	Cell Line	Cell type
1	chr14:67880503..67882430-chr14:67981236..67983724,2	MCF-7	breast:
2	chr14:67879811..67882553-chr14:67883761..67886791,3	K562	blood:
3	chr14:67880313..67882274-chr14:67888977..67891033,2	K562	blood:

Variant related genes	Relation type
PLEK2	TF binding region
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72719129	0.83[EUR][1000 genomes]
rs72719130	0.83[EUR][1000 genomes]
rs72719131	0.83[EUR][1000 genomes]
rs72719133	0.83[EUR][1000 genomes]
rs72719134	0.83[EUR][1000 genomes]
rs72719137	0.83[EUR][1000 genomes]
rs72719138	0.83[EUR][1000 genomes]
rs72719140	0.83[EUR][1000 genomes]
rs72719142	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
9	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55818207	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67879200-67881000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:67879200-67881000	Weak transcription	Right Atrium	heart
3	chr14:67879200-67881200	Enhancers	HUVEC	blood vessel
4	chr14:67879200-67881400	Flanking Active TSS	NHEK	skin
5	chr14:67879200-67882000	Enhancers	Placenta	Placenta
6	chr14:67879200-67885400	Weak transcription	Gastric	stomach
7	chr14:67879200-67886600	Weak transcription	Spleen	Spleen
8	chr14:67879400-67881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:67879400-67881000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:67879400-67882600	Weak transcription	Liver	Liver
11	chr14:67879400-67882600	Weak transcription	Fetal Intestine Large	intestine
12	chr14:67879400-67882600	Weak transcription	Pancreas	Pancrea
13	chr14:67879400-67883200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:67879600-67881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:67879600-67881400	Enhancers	Stomach Mucosa	stomach
16	chr14:67879600-67881800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:67879600-67888400	Weak transcription	Fetal Heart	heart
18	chr14:67879800-67881000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:67880000-67881400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:67880000-67885400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:67880200-67881400	Enhancers	Lung	lung
22	chr14:67880200-67881800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:67880200-67883800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:67880200-67885200	Enhancers	K562	blood
25	chr14:67880400-67881000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:67880400-67881000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:67880400-67881600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:67880400-67881800	Flanking Active TSS	Hela-S3	cervix
29	chr14:67880600-67881000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr14:67880600-67881000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:67880600-67881000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:67880600-67881000	Enhancers	A549	lung
33	chr14:67880600-67881000	Flanking Active TSS	HMEC	breast
34	chr14:67880600-67881400	Enhancers	HSMM	muscle
35	chr14:67880600-67881600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:67880600-67881600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:67880600-67881600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:67880600-67881600	Enhancers	NHDF-Ad	bronchial
39	chr14:67880600-67881800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:67880600-67881800	Enhancers	NH-A	brain
41	chr14:67880800-67881000	Bivalent Enhancer	Small Intestine	intestine
42	chr14:67880800-67881200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:67880800-67881400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:67880800-67881400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr14:67880800-67881400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:67880800-67881400	Enhancers	Osteobl	bone
47	chr14:67880800-67881800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:67880800-67881800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:67880800-67881800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr14:67880800-67881800	Enhancers	NHLF	lung

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