Variant report

Variant	rs10140248
Chromosome Location	chr14:31494030-31494031
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	FOS	chr14:31493843-31494627	MCF10A-Er-Src	breast:	n/a	chr14:31494445-31494454 chr14:31494446-31494455 chr14:31494444-31494455
2	SIN3AK20	chr14:31493798-31495202	HepG2	liver:	n/a	n/a
3	HCFC1	chr14:31493159-31496748	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr14:31493979-31494813	Hela-S3	cervix:	n/a	n/a
5	FOXA2	chr14:31493806-31494149	HepG2	liver:	n/a	chr14:31494074-31494086
6	MYBL2	chr14:31492781-31497072	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:31493848-31496566	PBDE	blood:	n/a	n/a
8	MYBL2	chr14:31493769-31496605	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:31494001-31496658	MCF10A-Er-Src	breast:	n/a	n/a
10	TEAD4	chr14:31492623-31495181	HepG2	liver:	n/a	n/a
11	MBD4	chr14:31492852-31495377	HepG2	liver:	n/a	n/a
12	FOS	chr14:31493997-31494658	MCF10A-Er-Src	breast:	n/a	chr14:31494445-31494454 chr14:31494446-31494455 chr14:31494444-31494455
13	MBD4	chr14:31493001-31495123	HepG2	liver:	n/a	n/a
14	MXI1	chr14:31493290-31496538	IMR90	lung:	n/a	n/a
15	POLR2A	chr14:31493818-31496554	HepG2	liver:	n/a	n/a
16	FOXA1	chr14:31493703-31494260	HepG2	liver:	n/a	chr14:31494074-31494086
17	ZNF263	chr14:31493893-31496543	HEK293-T-REx	kidney:	n/a	chr14:31493902-31493911 chr14:31496331-31496340 chr14:31496281-31496302
18	POLR2A	chr14:31493870-31496263	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:31493679-31495230	HepG2	liver:	n/a	n/a
20	MXI1	chr14:31493942-31496826	SK-N-SH	brain:	n/a	n/a
21	HEY1	chr14:31494018-31496619	HepG2	liver:	n/a	chr14:31495474-31495489 chr14:31495405-31495420 chr14:31495402-31495417 chr14:31495460-31495475

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31493685..31496220-chr7:73243843..73246748,2	MCF-7	breast:
3	chr14:31482144..31489136-chr14:31492335..31498565,14	MCF-7	breast:
4	chr14:31476012..31477905-chr14:31492310..31494262,2	MCF-7	breast:
5	chr14:31493616..31495498-chr14:31675892..31677511,2	K562	blood:
6	chr14:31343274..31345144-chr14:31492852..31495272,2	K562	blood:

Variant related genes	Relation type
AP4S1	TF binding region
ENSG00000258968	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000207952	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000189143	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10047928	0.83[AMR][1000 genomes]
rs10142411	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156654	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624128	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12881165	1.00[ASN][1000 genomes]
rs12881677	1.00[ASN][1000 genomes]
rs12883240	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885160	1.00[ASN][1000 genomes]
rs12886365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886419	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889381	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891080	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892791	1.00[ASN][1000 genomes]
rs12894032	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895940	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896432	0.83[AMR][1000 genomes]
rs12897351	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898167	1.00[ASN][1000 genomes]
rs34399663	1.00[ASN][1000 genomes]
rs34869270	1.00[ASN][1000 genomes]
rs35941434	1.00[ASN][1000 genomes]
rs61976839	1.00[ASN][1000 genomes]
rs61976841	1.00[ASN][1000 genomes]
rs6571381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67489064	1.00[ASN][1000 genomes]
rs7141291	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427204	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7143908	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145438	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7146946	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7151175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154605	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8015705	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
3	chr14:31482600-31494400	Weak transcription	Lung	lung
4	chr14:31487800-31494400	Weak transcription	Esophagus	oesophagus
5	chr14:31487800-31494400	Weak transcription	Spleen	Spleen
6	chr14:31488000-31494400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:31488400-31494200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31490200-31494400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:31490200-31494400	Weak transcription	Pancreas	Pancrea
10	chr14:31492400-31494600	Flanking Active TSS	Dnd41	blood
11	chr14:31492400-31497200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:31492400-31497400	Active TSS	K562	blood
13	chr14:31492600-31496600	Active TSS	GM12878-XiMat	blood
14	chr14:31492600-31497000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:31492800-31494200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:31492800-31494600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:31492800-31494600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:31493000-31494200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:31493000-31494200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:31493000-31494200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:31493000-31494200	Flanking Active TSS	Fetal Brain Female	brain
22	chr14:31493000-31494400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:31493000-31494600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:31493000-31496600	Active TSS	Fetal Intestine Large	intestine
25	chr14:31493000-31496800	Active TSS	Fetal Intestine Small	intestine
26	chr14:31493000-31497000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:31493000-31497000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:31493000-31497000	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:31493000-31497000	Active TSS	HSMMtube	muscle
30	chr14:31493000-31497200	Active TSS	NHLF	lung
31	chr14:31493200-31494200	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:31493200-31494200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr14:31493200-31494400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr14:31493200-31494400	Flanking Active TSS	Hela-S3	cervix
35	chr14:31493200-31494400	Flanking Active TSS	HUVEC	blood vessel
36	chr14:31493200-31494600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr14:31493200-31494600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr14:31493200-31494800	Active TSS	Right Atrium	heart
39	chr14:31493200-31496800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:31493200-31496800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:31493200-31496800	Active TSS	Aorta	Aorta
42	chr14:31493200-31496800	Active TSS	Right Ventricle	heart
43	chr14:31493200-31497000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr14:31493200-31497000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:31493200-31497000	Active TSS	Psoas Muscle	Psoas
46	chr14:31493400-31494200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:31493400-31494200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr14:31493400-31494200	Flanking Active TSS	Osteobl	bone
49	chr14:31493400-31494400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:31493400-31494400	Flanking Active TSS	Brain Anterior Caudate	brain

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