Variant report

Variant	rs17111244
Chromosome Location	chr14:81406680-81406681
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	FOS	chr14:81406492-81406845	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
2	FOS	chr14:81406471-81406791	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
3	FOS	chr14:81406492-81406818	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
4	REST	chr14:81406665-81406793	Hela-S3	cervix:	n/a	n/a
5	JUND	chr14:81406568-81406711	K562	blood:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
6	CEBPB	chr14:81406499-81406725	Hela-S3	cervix:	n/a	chr14:81406580-81406591 chr14:81406580-81406593
7	FOS	chr14:81406533-81406793	MCF10A-Er-Src	breast:	n/a	chr14:81406672-81406680 chr14:81406673-81406680 chr14:81406672-81406681
8	MYC	chr14:81406570-81406841	MCF10A-Er-Src	breast:	n/a	chr14:81406671-81406680
9	MAX	chr14:81406611-81406894	K562	blood:	n/a	chr14:81406671-81406680
10	BATF	chr14:81406533-81406767	GM12878	blood:	n/a	chr14:81406669-81406679 chr14:81406668-81406679
11	MXI1	chr14:81406597-81406785	Hela-S3	cervix:	n/a	n/a
12	MYC	chr14:81406586-81406771	MCF10A-Er-Src	breast:	n/a	chr14:81406671-81406680
13	CEBPB	chr14:81406503-81406683	K562	blood:	n/a	chr14:81406580-81406591 chr14:81406580-81406593

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10134279	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10140767	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10147896	1.00[AMR][1000 genomes]
rs10149913	1.00[AMR][1000 genomes]
rs10150034	1.00[CEU][hapmap]
rs10151027	1.00[CEU][hapmap]
rs10162526	1.00[CEU][hapmap]
rs10220494	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10220567	1.00[AMR][1000 genomes]
rs162173	1.00[CEU][hapmap]
rs162179	1.00[CEU][hapmap]
rs28452095	1.00[AMR][1000 genomes]
rs28519983	1.00[AMR][1000 genomes]
rs28603151	1.00[AMR][1000 genomes]
rs28620988	1.00[AMR][1000 genomes]
rs28695726	1.00[AMR][1000 genomes]
rs28712586	1.00[AMR][1000 genomes]
rs28887590	1.00[AMR][1000 genomes]
rs327432	1.00[CEU][hapmap]
rs327436	1.00[CEU][hapmap]
rs327437	1.00[CEU][hapmap]
rs327468	1.00[CEU][hapmap]
rs370473	1.00[CEU][hapmap]
rs4400984	1.00[AMR][1000 genomes]
rs7155765	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:81375400-81407600	Weak transcription	Gastric	stomach
3	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
9	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
10	chr14:81393000-81407600	Weak transcription	Lung	lung
11	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
13	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
15	chr14:81397400-81407200	Weak transcription	Ovary	ovary
16	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
20	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
24	chr14:81400600-81407200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:81400800-81407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:81401000-81407200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:81401000-81407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:81401200-81407200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:81402400-81407200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:81402600-81407000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:81402800-81407200	Weak transcription	Liver	Liver
32	chr14:81402800-81407200	Weak transcription	Thymus	Thymus
33	chr14:81403200-81407000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:81404000-81407200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:81405400-81407200	Weak transcription	Osteobl	bone
36	chr14:81405600-81407600	Weak transcription	Spleen	Spleen
37	chr14:81405800-81407200	Weak transcription	Fetal Thymus	thymus
38	chr14:81406000-81406800	Enhancers	A549	lung
39	chr14:81406000-81407000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:81406000-81407200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:81406000-81407200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr14:81406000-81407400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:81406200-81406800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:81406200-81406800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:81406200-81407400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:81406200-81407600	Flanking Active TSS	Dnd41	blood
47	chr14:81406400-81407000	Enhancers	HepG2	liver
48	chr14:81406400-81407000	Flanking Active TSS	NHEK	skin
49	chr14:81406400-81407200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:81406400-81407200	Enhancers	Muscle Satellite Cultured Cells	--

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