Variant report

Variant	rs67808375
Chromosome Location	chr14:39579958-39579959
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39570986..39573343-chr14:39579175..39581108,3	MCF-7	breast:
2	chr14:39571044..39574449-chr14:39575206..39581914,9	K562	blood:
3	chr14:39579122..39580804-chr14:39643639..39645795,2	MCF-7	breast:
4	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
5	chr14:39578856..39580963-chr14:39581859..39584324,3	K562	blood:

Variant related genes	Relation type
ENSG00000100941	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000258651	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10483540	0.82[EUR][1000 genomes]
rs17108815	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45469295	0.91[EUR][1000 genomes]
rs45469795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540035	0.98[EUR][1000 genomes]
rs55790340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880223	0.91[EUR][1000 genomes]
rs55918207	0.89[EUR][1000 genomes]
rs55981737	0.91[EUR][1000 genomes]
rs55987939	0.87[EUR][1000 genomes]
rs55997577	0.98[EUR][1000 genomes]
rs56032918	0.91[EUR][1000 genomes]
rs56063785	0.89[EUR][1000 genomes]
rs56074634	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087094	0.89[EUR][1000 genomes]
rs56103446	0.98[EUR][1000 genomes]
rs56125789	0.98[EUR][1000 genomes]
rs56136756	0.89[EUR][1000 genomes]
rs56225465	0.93[EUR][1000 genomes]
rs56225696	0.87[EUR][1000 genomes]
rs56237815	0.89[EUR][1000 genomes]
rs56276842	0.87[EUR][1000 genomes]
rs56282196	0.91[EUR][1000 genomes]
rs56328886	0.89[EUR][1000 genomes]
rs56333870	0.95[EUR][1000 genomes]
rs56334607	0.89[EUR][1000 genomes]
rs56335002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56341545	0.89[EUR][1000 genomes]
rs56404404	0.91[EUR][1000 genomes]
rs57248532	0.88[EUR][1000 genomes]
rs59418195	0.96[EUR][1000 genomes]
rs6571907	0.82[EUR][1000 genomes]
rs67970726	0.83[EUR][1000 genomes]
rs7147914	0.91[EUR][1000 genomes]
rs7148908	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7150638	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161065	0.82[EUR][1000 genomes]
rs72669383	0.80[EUR][1000 genomes]
rs72669388	0.89[EUR][1000 genomes]
rs72669397	0.89[EUR][1000 genomes]
rs72669399	0.87[EUR][1000 genomes]
rs72669400	0.87[EUR][1000 genomes]
rs72671304	0.87[EUR][1000 genomes]
rs72671307	0.87[EUR][1000 genomes]
rs72671309	0.85[EUR][1000 genomes]
rs72671311	0.87[EUR][1000 genomes]
rs72671316	0.89[EUR][1000 genomes]
rs72671332	0.87[EUR][1000 genomes]
rs72671333	0.89[EUR][1000 genomes]
rs72671344	0.89[EUR][1000 genomes]
rs72671349	0.89[EUR][1000 genomes]
rs72671353	0.89[EUR][1000 genomes]
rs72671360	0.93[EUR][1000 genomes]
rs72671362	0.93[EUR][1000 genomes]
rs72671367	0.93[EUR][1000 genomes]
rs72671372	0.98[EUR][1000 genomes]
rs72671379	0.98[EUR][1000 genomes]
rs72671382	0.98[EUR][1000 genomes]
rs72671387	0.98[EUR][1000 genomes]
rs72671398	0.98[EUR][1000 genomes]
rs72671400	0.98[EUR][1000 genomes]
rs72673307	0.88[EUR][1000 genomes]
rs72673314	0.98[EUR][1000 genomes]
rs72673315	1.00[EUR][1000 genomes]
rs72673316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673318	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673328	0.96[EUR][1000 genomes]
rs72673329	0.96[EUR][1000 genomes]
rs72673339	0.96[EUR][1000 genomes]
rs72673340	0.89[EUR][1000 genomes]
rs72673346	0.91[EUR][1000 genomes]
rs72673350	0.91[EUR][1000 genomes]
rs72673357	0.89[EUR][1000 genomes]
rs72673359	0.87[EUR][1000 genomes]
rs8009457	0.89[EUR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39573400-39582400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:39573400-39583000	Weak transcription	HSMM	muscle
3	chr14:39573800-39583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:39573800-39583000	Weak transcription	Thymus	Thymus
5	chr14:39574000-39582400	Weak transcription	A549	lung
6	chr14:39574000-39582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:39574000-39583000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr14:39574000-39583000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:39574000-39583000	Weak transcription	Stomach Mucosa	stomach
10	chr14:39574200-39582400	Weak transcription	Dnd41	blood
11	chr14:39574200-39583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:39574400-39582400	Weak transcription	Hela-S3	cervix
13	chr14:39574400-39582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:39577200-39582400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:39577200-39582800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:39577600-39582800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:39579200-39580000	Enhancers	Gastric	stomach
18	chr14:39579400-39581800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:39579400-39582000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:39579600-39580000	Enhancers	GM12878-XiMat	blood
21	chr14:39579600-39580000	Flanking Active TSS	HepG2	liver
22	chr14:39579600-39583000	Weak transcription	K562	blood
23	chr14:39579800-39580000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:39579800-39583000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:39579800-39583000	Weak transcription	Rectal Mucosa Donor 31	rectum

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