Variant report

Variant	rs2415542
Chromosome Location	chr14:39834834-39834835
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39571533..39573983-chr14:39833782..39838007,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1056345	0.83[AMR][1000 genomes]
rs11560068	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891025	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12891299	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17621388	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17694832	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34173090	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34594880	0.81[EUR][1000 genomes]
rs34983854	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4531652	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7143942	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7149971	0.80[EUR][1000 genomes]
rs72675474	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014839	0.80[ASN][1000 genomes]
rs8015094	0.80[ASN][1000 genomes]
rs8017737	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020472	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8020596	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
3	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
5	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
7	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
9	chr14:39802800-39835400	Weak transcription	Gastric	stomach
10	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
11	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
12	chr14:39803000-39845800	Weak transcription	NHEK	skin
13	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
14	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:39803400-39843800	Weak transcription	HMEC	breast
17	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
18	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
21	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
23	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
24	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
25	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
26	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
30	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:39823000-39839200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:39826000-39843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:39828800-39835600	Weak transcription	Spleen	Spleen
34	chr14:39829000-39835600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:39829000-39836000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:39829000-39836000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:39829000-39839400	Weak transcription	Ovary	ovary
38	chr14:39829200-39835400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:39829600-39835600	Weak transcription	Pancreas	Pancrea
40	chr14:39829600-39839400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:39830200-39835200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:39832800-39835600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:39833000-39835400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr14:39833400-39835400	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr14:39833800-39835400	Weak transcription	Primary T cells from cord blood	blood
46	chr14:39833800-39839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:39833800-39841400	Weak transcription	Osteobl	bone
48	chr14:39834000-39835400	Weak transcription	HepG2	liver
49	chr14:39834000-39837400	Weak transcription	A549	lung
50	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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