Variant report

Variant	rs10142117
Chromosome Location	chr14:39566571-39566572
allele	C/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	HNF4A	chr14:39566386-39566721	HepG2	liver:	n/a	chr14:39566588-39566601 chr14:39566587-39566601 chr14:39566586-39566601
2	HNF4A	chr14:39566364-39566797	HepG2	liver:	n/a	chr14:39566588-39566601 chr14:39566587-39566601 chr14:39566586-39566601
3	MYC	chr14:39566339-39566641	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:39566341-39566697	MCF10A-Er-Src	breast:	n/a	n/a
5	TEAD4	chr14:39566044-39566813	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:39566351-39566604	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr14:39566519-39566670	HepG2	liver:	n/a	n/a
8	MYBL2	chr14:39566196-39566700	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:39566543-39566641	HepG2	liver:	n/a	n/a
10	HNF4G	chr14:39566366-39566700	HepG2	liver:	n/a	chr14:39566588-39566601 chr14:39566587-39566601 chr14:39566586-39566601
11	MYBL2	chr14:39566173-39566938	HepG2	liver:	n/a	n/a
12	FOS	chr14:39566419-39566621	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr14:39566377-39566825	HepG2	liver:	n/a	chr14:39566685-39566699
14	EGR1	chr14:39566392-39566714	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr14:39566445-39566645	HepG2	liver:	n/a	n/a
16	FOS	chr14:39566419-39566650	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr14:39566343-39566682	HepG2	liver:	n/a	n/a
18	EP300	chr14:39566279-39566787	HepG2	liver:	n/a	chr14:39566685-39566699
19	JUND	chr14:39566374-39566609	HepG2	liver:	n/a	n/a
20	MYC	chr14:39566352-39566641	MCF10A-Er-Src	breast:	n/a	n/a
21	ARID3A	chr14:39566340-39566686	HepG2	liver:	n/a	n/a
22	FOXA1	chr14:39566191-39566675	HepG2	liver:	n/a	n/a
23	FOS	chr14:39566323-39566719	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:39566308-39566657	HepG2	liver:	n/a	n/a
25	MXI1	chr14:39566411-39566644	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39564253..39566731-chr14:39570082..39573549,3	MCF-7	breast:
2	chr14:39552215..39554960-chr14:39566329..39568969,2	K562	blood:
3	chr14:39565825..39569831-chr14:39570410..39572349,3	MCF-7	breast:
4	chr14:39565337..39567780-chr14:39737837..39739519,2	MCF-7	breast:
5	chr14:39565900..39568823-chr14:39571279..39573305,2	K562	blood:

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1002193	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10129762	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131369	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10134166	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139666	0.82[EUR][1000 genomes]
rs10140763	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10142350	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10145476	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10146176	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10148712	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs10151124	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10483543	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1050136	0.85[ASN][1000 genomes]
rs11622731	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13021	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17092044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs17108948	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2144529	0.83[ASN][1000 genomes]
rs2144530	0.88[ASN][1000 genomes]
rs2180216	0.83[ASN][1000 genomes]
rs2273592	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28501673	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28583114	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28666016	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28821293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57482489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58601678	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59465524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74048711	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018720	0.88[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs8022510	0.87[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
4	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:39554800-39571600	Weak transcription	K562	blood
9	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:39555800-39569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:39556800-39566800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:39558800-39571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:39560200-39569400	Weak transcription	Spleen	Spleen
14	chr14:39560200-39569800	Weak transcription	Pancreas	Pancrea
15	chr14:39560200-39571000	Weak transcription	Aorta	Aorta
16	chr14:39560400-39571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:39560400-39571600	Weak transcription	Esophagus	oesophagus
18	chr14:39560400-39571600	Weak transcription	Gastric	stomach
19	chr14:39561000-39570600	Weak transcription	Lung	lung
20	chr14:39561000-39571200	Weak transcription	Colonic Mucosa	Colon
21	chr14:39561000-39571400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:39561000-39571400	Weak transcription	Psoas Muscle	Psoas
23	chr14:39561400-39569200	Weak transcription	Fetal Brain Male	brain
24	chr14:39561600-39569000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:39561600-39571200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:39561600-39571400	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:39561600-39571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:39562800-39567200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:39563400-39567200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:39563400-39571600	Weak transcription	Thymus	Thymus
31	chr14:39564000-39571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:39564200-39568800	Weak transcription	Hela-S3	cervix
33	chr14:39564400-39569200	Weak transcription	HMEC	breast
34	chr14:39564400-39570400	Weak transcription	Fetal Brain Female	brain
35	chr14:39564400-39571000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:39564400-39571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:39564400-39571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:39564600-39569000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:39564600-39571000	Weak transcription	HSMMtube	muscle
40	chr14:39564600-39571400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:39564800-39571000	Weak transcription	Brain Substantia Nigra	brain
42	chr14:39564800-39571200	Weak transcription	Fetal Thymus	thymus
43	chr14:39564800-39571200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:39564800-39571200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:39564800-39571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:39565000-39568600	Weak transcription	Brain Germinal Matrix	brain
47	chr14:39565000-39569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:39565000-39571000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:39565000-39571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:39565000-39571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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