Variant report

Variant	rs1111692
Chromosome Location	chr14:32942539-32942540
allele	A/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	SMC3	chr14:32941322-32943058	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:32941781-32943145	MCF10A-Er-Src	breast:	n/a	n/a
3	NR2F2	chr14:32942459-32943127	MCF-7	breast:	n/a	n/a
4	TCF7L2	chr14:32941356-32942957	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr14:32942385-32943272	MCF-7	breast:	n/a	chr14:32942694-32942703
6	SP1	chr14:32942508-32943150	A549	lung:	n/a	n/a
7	TCF12	chr14:32942086-32943093	A549	lung:	n/a	chr14:32942879-32942886
8	ELK1	chr14:32942452-32942985	Hela-S3	cervix:	n/a	n/a
9	REST	chr14:32942465-32943169	MCF-7	breast:	n/a	chr14:32942981-32942999 chr14:32942980-32943000
10	MEF2A	chr14:32941748-32942598	SK-N-SH	brain:	n/a	chr14:32942538-32942554 chr14:32942396-32942411 chr14:32942538-32942553 chr14:32942396-32942411
11	EP300	chr14:32941525-32943172	SK-N-SH	brain:	n/a	chr14:32942112-32942126 chr14:32942730-32942744 chr14:32942117-32942125 chr14:32942682-32942692 chr14:32942101-32942115 chr14:32942107-32942121
12	MYC	chr14:32941892-32943167	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr14:32941709-32942935	SK-N-SH	brain:	n/a	chr14:32942694-32942703
14	TCF12	chr14:32941617-32943191	SK-N-SH	brain:	n/a	chr14:32942879-32942886
15	GTF2F1	chr14:32941758-32943062	Hela-S3	cervix:	n/a	n/a
16	EP300	chr14:32942461-32943177	T-47D	breast:	n/a	chr14:32942730-32942744 chr14:32942682-32942692
17	GATA3	chr14:32941670-32943202	SK-N-SH	brain:	n/a	chr14:32942694-32942703
18	RFX5	chr14:32941812-32943003	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr14:32942431-32942983	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr14:32941622-32943154	SK-N-SH	brain:	n/a	n/a
21	RCOR1	chr14:32941857-32943069	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:32941930-32943136	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr14:32941344-32943027	Hela-S3	cervix:	n/a	n/a
24	STAT3	chr14:32942012-32943167	MCF10A-Er-Src	breast:	n/a	n/a
25	TEAD4	chr14:32941718-32943026	SK-N-SH	brain:	n/a	chr14:32942275-32942284
26	FOSL2	chr14:32942455-32942977	A549	lung:	n/a	chr14:32942692-32942703 chr14:32942689-32942701
27	EP300	chr14:32941690-32942627	SK-N-SH	brain:	n/a	chr14:32942112-32942126 chr14:32942117-32942125 chr14:32942101-32942115 chr14:32942107-32942121
28	EP300	chr14:32941923-32942976	Hela-S3	cervix:	n/a	chr14:32942112-32942126 chr14:32942730-32942744 chr14:32942117-32942125 chr14:32942682-32942692 chr14:32942101-32942115 chr14:32942107-32942121
29	MAX	chr14:32941811-32943005	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr14:32941648-32943055	SK-N-SH	brain:	n/a	chr14:32942879-32942886

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32941433..32942936-chr14:32946433..32948525,2	MCF-7	breast:

Variant related genes	Relation type
AKAP6	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10872865	0.83[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs10872866	0.83[JPT][hapmap]
rs1951192	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745561	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1111692	HECTD1	cis	cerebellum	SCAN
rs1111692	NFKBIA	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32936200-32942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:32936200-32942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:32936400-32943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32936400-32944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:32936800-32944000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:32938000-32947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:32938200-32943600	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:32939200-32942600	Enhancers	Brain Germinal Matrix	brain
9	chr14:32939400-32944800	Enhancers	Brain Angular Gyrus	brain
10	chr14:32940400-32942600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:32940400-32943600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:32940400-32943600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:32940600-32943000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:32940600-32943200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:32940600-32944600	Enhancers	Colon Smooth Muscle	Colon
16	chr14:32940800-32943000	Enhancers	Psoas Muscle	Psoas
17	chr14:32940800-32943200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:32940800-32943600	Enhancers	Fetal Intestine Large	intestine
19	chr14:32941000-32943000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:32941000-32943000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:32941000-32943200	Enhancers	Aorta	Aorta
22	chr14:32941000-32943400	Enhancers	Placenta	Placenta
23	chr14:32941200-32942600	Enhancers	Fetal Thymus	thymus
24	chr14:32941200-32943000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:32941200-32943000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:32941200-32943000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr14:32941200-32943000	Enhancers	Left Ventricle	heart
28	chr14:32941200-32943200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:32941200-32943200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:32941200-32943200	Enhancers	Fetal Stomach	stomach
31	chr14:32941200-32943200	Enhancers	NH-A	brain
32	chr14:32941200-32943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:32941200-32943600	Enhancers	Liver	Liver
34	chr14:32941400-32942800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:32941400-32942800	Enhancers	Small Intestine	intestine
36	chr14:32941400-32943000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:32941400-32943000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:32941400-32943000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr14:32941400-32943000	Enhancers	Fetal Intestine Small	intestine
40	chr14:32941400-32943000	Enhancers	Fetal Lung	lung
41	chr14:32941400-32943200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:32941400-32943200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:32941400-32943200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:32941400-32943400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:32941400-32943600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:32941400-32943600	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:32941600-32942600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:32941600-32942600	Enhancers	Fetal Kidney	kidney
49	chr14:32941600-32943000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:32941600-32943000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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