Variant report

Variant	rs8014839
Chromosome Location	chr14:39844119-39844120
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	MAX	chr14:39844115-39844463	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:39843453-39844553	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr14:39844011-39844651	SK-N-SH	brain:	n/a	n/a
4	MYC	chr14:39844060-39844464	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:39844087-39844347	MCF10A-Er-Src	breast:	n/a	chr14:39844201-39844212
6	POLR2A	chr14:39844041-39844415	HUVEC	blood vessel:	n/a	n/a
7	TCF12	chr14:39843982-39844646	SK-N-SH	brain:	n/a	n/a
8	FOS	chr14:39843810-39844373	MCF10A-Er-Src	breast:	n/a	chr14:39844201-39844212
9	FOS	chr14:39843591-39844538	HUVEC	blood vessel:	n/a	chr14:39843769-39843779 chr14:39843770-39843777 chr14:39844201-39844212 chr14:39843769-39843779 chr14:39843770-39843778 chr14:39843769-39843779 chr14:39843770-39843778

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39834152..39839984-chr14:39840314..39846059,5	MCF-7	breast:
2	chr14:39643516..39645871-chr14:39842730..39845557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271424	TF binding region
ENSG00000271424	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000100941	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10137623	0.80[CHB][hapmap]
rs11560068	0.80[ASN][1000 genomes]
rs1570131	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs17621388	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17692639	0.93[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs17694832	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs2415542	0.80[ASN][1000 genomes]
rs2415546	0.82[CHB][hapmap]
rs28464878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143942	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs7154632	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs7155164	0.93[CEU][hapmap];0.90[JPT][hapmap]
rs8006182	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs8015094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020472	0.81[ASN][1000 genomes]
rs8020596	0.80[ASN][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	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39803000-39845800	Weak transcription	NHEK	skin
3	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
5	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
6	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
7	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:39834600-39846000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:39834800-39846000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:39835000-39851600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:39835200-39851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:39835400-39851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:39836000-39845600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
18	chr14:39836400-39870600	Weak transcription	Gastric	stomach
19	chr14:39836600-39845800	Weak transcription	Right Atrium	heart
20	chr14:39836600-39852600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:39836800-39845800	Weak transcription	Brain Anterior Caudate	brain
22	chr14:39836800-39845800	Weak transcription	Right Ventricle	heart
23	chr14:39837000-39852600	Weak transcription	Primary T cells from cord blood	blood
24	chr14:39837600-39845800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:39837600-39845800	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:39837600-39845800	Weak transcription	Fetal Heart	heart
27	chr14:39837600-39845800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:39837600-39846000	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:39837600-39846000	Weak transcription	HSMMtube	muscle
30	chr14:39837800-39845800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:39837800-39851600	Weak transcription	Dnd41	blood
32	chr14:39838400-39845600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:39838600-39845800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:39838600-39850800	Weak transcription	Fetal Thymus	thymus
35	chr14:39838800-39845600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:39838800-39845800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:39839000-39845800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:39839800-39850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:39840000-39845800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:39840000-39845800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:39840000-39845800	Weak transcription	Adipose Nuclei	Adipose
42	chr14:39840000-39846000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:39840000-39846000	Weak transcription	Ovary	ovary
44	chr14:39840000-39846200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:39840000-39850400	Weak transcription	Aorta	Aorta
46	chr14:39840000-39851600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:39840000-39852600	Weak transcription	Thymus	Thymus
48	chr14:39840000-39855000	Weak transcription	Fetal Stomach	stomach
49	chr14:39840000-39856000	Weak transcription	Fetal Intestine Small	intestine
50	chr14:39840000-39863200	Weak transcription	Fetal Muscle Trunk	muscle

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