Variant report

Variant	rs561622044
Chromosome Location	chr19:18170363-18170364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18116678..18118349-chr19:18169310..18171624,2	MCF-7	breast:
2	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
3	chr19:18112057..18114100-chr19:18169438..18171511,2	MCF-7	breast:
4	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
5	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:
6	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
7	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:

Variant related genes	Relation type
ENSG00000105643	Chromatin interaction
ENSG00000105655	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	esv1836842	chr19:18085428-18173603	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	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
7	nsv911235	chr19:18143862-18175853	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv911236	chr19:18169314-18175853	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18169400-18170400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:18169400-18170400	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr19:18169600-18170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:18169600-18170400	Enhancers	Brain Substantia Nigra	brain
6	chr19:18169600-18170600	Weak transcription	Spleen	Spleen
7	chr19:18169600-18173000	Weak transcription	Lung	lung
8	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
9	chr19:18169600-18195000	Weak transcription	Gastric	stomach
10	chr19:18169800-18170400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:18169800-18170600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr19:18169800-18171000	Weak transcription	HepG2	liver
13	chr19:18169800-18172000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:18169800-18172800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:18169800-18172800	Weak transcription	Brain Angular Gyrus	brain
16	chr19:18169800-18172800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:18169800-18172800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:18169800-18172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:18169800-18173000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:18169800-18173000	Weak transcription	Brain Anterior Caudate	brain
21	chr19:18169800-18173600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:18169800-18174400	Weak transcription	K562	blood
23	chr19:18169800-18175800	Weak transcription	Hela-S3	cervix
24	chr19:18169800-18178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:18169800-18179600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:18169800-18180000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr19:18169800-18180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:18169800-18180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:18169800-18181000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:18169800-18181000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
32	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:18170000-18178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18170200-18170800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:18170200-18171000	Strong transcription	GM12878-XiMat	blood
39	chr19:18170200-18172000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:18170200-18172200	Strong transcription	Primary T cells from cord blood	blood
41	chr19:18170200-18173600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:18170200-18181000	Weak transcription	Fetal Thymus	thymus
43	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood

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