Variant report

Variant	rs1056345
Chromosome Location	chr14:39865674-39865675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39863679..39866001-chr14:39899899..39901837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11560068	0.80[AMR][1000 genomes]
rs12879584	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12881098	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12884137	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12885079	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12886403	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17621388	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs17694832	0.92[CEU][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17696574	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1955704	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2148507	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415542	0.83[AMR][1000 genomes]
rs2415546	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34173090	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34629111	0.82[AMR][1000 genomes]
rs34651350	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34654496	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34697019	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34829840	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34983854	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35026953	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35297616	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35690918	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36090203	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4531652	0.82[AMR][1000 genomes]
rs56127968	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7143942	0.80[CEU][hapmap]
rs7152028	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72675474	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72677625	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8006182	0.80[CEU][hapmap]
rs8017737	0.86[AMR][1000 genomes]
rs8020472	0.83[AMR][1000 genomes]
rs8020596	0.83[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	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
5	chr14:39836400-39870600	Weak transcription	Gastric	stomach
6	chr14:39840000-39867000	Weak transcription	Left Ventricle	heart
7	chr14:39840000-39867400	Weak transcription	Pancreas	Pancrea
8	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:39840200-39867200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:39841000-39865800	Weak transcription	Primary B cells from cord blood	blood
11	chr14:39841200-39867000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
13	chr14:39846400-39867200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:39846600-39866600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:39846800-39872400	Weak transcription	HSMMtube	muscle
16	chr14:39850400-39870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:39851000-39866800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:39851200-39866000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:39851200-39868600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:39851400-39868600	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:39851400-39868600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:39853000-39867400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:39853000-39867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:39853200-39866200	Weak transcription	GM12878-XiMat	blood
25	chr14:39853200-39867800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:39853600-39866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:39853600-39867200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:39853600-39874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:39854400-39872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:39855400-39868800	Weak transcription	Aorta	Aorta
31	chr14:39856200-39867200	Weak transcription	Thymus	Thymus
32	chr14:39857000-39870400	Weak transcription	Brain Germinal Matrix	brain
33	chr14:39858600-39866200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:39860000-39867000	Weak transcription	Ovary	ovary
35	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
36	chr14:39860400-39868600	Weak transcription	A549	lung
37	chr14:39860600-39866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:39860600-39867200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:39860800-39868400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:39861000-39867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:39861000-39868400	Weak transcription	Hela-S3	cervix
42	chr14:39861200-39871800	Weak transcription	Fetal Brain Male	brain
43	chr14:39861200-39872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:39861400-39866200	Weak transcription	Placenta	Placenta
45	chr14:39861400-39868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:39861400-39874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:39861600-39866000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:39861600-39867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:39861800-39872000	Weak transcription	K562	blood
50	chr14:39862000-39867200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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