Variant report

Variant	rs17127755
Chromosome Location	chr14:55150680-55150681
allele	C/G
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	JUND	chr14:55150625-55151376	SK-N-SH	brain:	n/a	chr14:55151330-55151339 chr14:55151327-55151336 chr14:55151332-55151341 chr14:55151331-55151340 chr14:55151328-55151337
2	GATA3	chr14:55150517-55151468	SK-N-SH	brain:	n/a	chr14:55151272-55151288 chr14:55151274-55151286 chr14:55151275-55151284
3	FOSL2	chr14:55150546-55151310	SK-N-SH	brain:	n/a	n/a
4	STAT3	chr14:55150663-55151286	MCF10A-Er-Src	breast:	n/a	chr14:55151020-55151031 chr14:55151219-55151231
5	TCF12	chr14:55150382-55151558	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr14:55150342-55151448	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr14:55150528-55151460	SK-N-SH	brain:	n/a	chr14:55151272-55151288 chr14:55151274-55151286 chr14:55151275-55151284
8	POLR2A	chr14:55145558-55151599	K562	blood:	n/a	n/a
9	PBX3	chr14:55150484-55151382	SK-N-SH	brain:	n/a	n/a
10	STAT3	chr14:55150655-55151260	MCF10A-Er-Src	breast:	n/a	chr14:55151020-55151031 chr14:55151219-55151231
11	JUND	chr14:55150479-55151292	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr14:55150442-55151459	SK-N-SH	brain:	n/a	n/a
13	EP300	chr14:55150630-55151179	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr14:55150622-55151264	SK-N-SH_RA	brain:	n/a	n/a
15	RXRA	chr14:55150485-55151337	SK-N-SH	brain:	n/a	n/a
16	EP300	chr14:55150409-55151509	SK-N-SH	brain:	n/a	chr14:55151427-55151443
17	POLR2A	chr14:55150565-55151293	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55030986..55034597-chr14:55149499..55156969,7	K562	blood:
2	chr14:55031040..55033612-chr14:55148367..55150806,3	MCF-7	breast:
3	chr14:55144736..55146279-chr14:55149404..55151933,2	MCF-7	breast:
4	chr14:55134327..55137247-chr14:55150463..55152044,2	K562	blood:

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10873085	1.00[EUR][1000 genomes]
rs17127740	1.00[EUR][1000 genomes]
rs17127743	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17127752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418605	1.00[EUR][1000 genomes]
rs28532361	1.00[EUR][1000 genomes]
rs57571275	1.00[EUR][1000 genomes]
rs60333237	1.00[EUR][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	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55120000-55179400	Weak transcription	Fetal Intestine Small	intestine
2	chr14:55134800-55151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:55141200-55151000	Weak transcription	Fetal Lung	lung
4	chr14:55141200-55157400	Weak transcription	HepG2	liver
5	chr14:55141800-55151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:55142200-55152200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:55143400-55151000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55143600-55151000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:55143800-55151400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:55144200-55152200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:55144400-55151000	Weak transcription	Ovary	ovary
12	chr14:55144400-55154600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:55144400-55157600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55144600-55150800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:55145000-55150800	Weak transcription	Brain Anterior Caudate	brain
16	chr14:55145000-55150800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:55145000-55150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:55145000-55151000	Weak transcription	Fetal Stomach	stomach
19	chr14:55145000-55151400	Weak transcription	Brain Substantia Nigra	brain
20	chr14:55145200-55151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:55145800-55150800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:55146000-55152800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:55146400-55155000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:55146600-55150800	Weak transcription	HSMMtube	muscle
25	chr14:55146800-55151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:55146800-55153600	Enhancers	NHEK	skin
27	chr14:55147000-55153200	Enhancers	HUVEC	blood vessel
28	chr14:55147000-55153600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:55147400-55151000	Enhancers	Hela-S3	cervix
30	chr14:55147400-55153000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55147400-55153800	Enhancers	HMEC	breast
32	chr14:55147600-55155200	Enhancers	Left Ventricle	heart
33	chr14:55147800-55150800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:55148000-55151000	Weak transcription	Aorta	Aorta
35	chr14:55148400-55155400	Enhancers	NHLF	lung
36	chr14:55148600-55151000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:55148600-55151000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr14:55148600-55152000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:55148600-55152600	Enhancers	Osteobl	bone
40	chr14:55148600-55154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:55148800-55150800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:55148800-55155200	Enhancers	Right Ventricle	heart
43	chr14:55149000-55151000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:55149000-55151400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:55149000-55152400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:55149000-55155200	Enhancers	Psoas Muscle	Psoas
47	chr14:55149200-55151000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:55149200-55154800	Enhancers	NH-A	brain
49	chr14:55149200-55155000	Enhancers	NHDF-Ad	bronchial
50	chr14:55149200-55157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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