Variant report

Variant	rs381607
Chromosome Location	chr19:18181010-18181011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11575934	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17852635	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17879486	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17886247	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17887036	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2644777	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs365179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366653	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372889	0.93[ASN][1000 genomes]
rs373654	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs375947	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs376008	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs382634	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383483	0.93[ASN][1000 genomes]
rs391410	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401502	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429774	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452265	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs453263	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs455034	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121127	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255688	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv578742	chr19:18168674-18181779	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv911237	chr19:18169449-18193060	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv911239	chr19:18173603-18191059	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1067871	chr19:18174031-18186197	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv911240	chr19:18176357-18181779	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
3	chr19:18169600-18195000	Weak transcription	Gastric	stomach
4	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
5	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
11	chr19:18170400-18184000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr19:18171000-18183000	Weak transcription	GM12878-XiMat	blood
13	chr19:18177400-18186400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:18179400-18181400	Strong transcription	Spleen	Spleen
15	chr19:18179600-18194200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:18179800-18183800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:18179800-18184000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:18179800-18184000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:18180000-18183600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:18180000-18185200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr19:18180200-18181400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:18180200-18181600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:18180400-18184000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:18180800-18182800	Weak transcription	Primary T cells from cord blood	blood
25	chr19:18180800-18183400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:18181000-18181200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:18181000-18181200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:18181000-18181200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr19:18181000-18181400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr19:18181000-18181400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr19:18181000-18181400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr19:18181000-18181400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr19:18181000-18181800	Strong transcription	Fetal Thymus	thymus
34	chr19:18181000-18185000	Strong transcription	Primary B cells from peripheral blood	blood

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