Variant report

Variant	rs8112927
Chromosome Location	chr19:40927848-40927849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
2	chr19:40927277..40928845-chr19:40985269..40987231,2	MCF-7	breast:
3	chr19:40852935..40854515-chr19:40927354..40928926,2	K562	blood:
4	chr19:40923162..40928905-chr19:40946140..40953410,13	K562	blood:
5	chr19:40852293..40855712-chr19:40925717..40929885,3	MCF-7	breast:
6	chr19:40906949..40911838-chr19:40925099..40928868,7	MCF-7	breast:
7	chr19:40908326..40910073-chr19:40925324..40928202,3	MCF-7	breast:
8	chr19:40873191..40875442-chr19:40926761..40928544,2	K562	blood:
9	chr19:40852935..40855699-chr19:40927426..40929169,2	K562	blood:
10	chr19:40927815..40929486-chr19:41109339..41111164,2	K562	blood:
11	chr19:40925645..40930180-chr19:40968953..40973278,5	MCF-7	breast:
12	chr19:40924589..40928891-chr19:40945459..40952399,19	MCF-7	breast:
13	chr19:40925517..40930305-chr19:40937557..40941421,7	K562	blood:
14	chr19:40922138..40925110-chr19:40925647..40928486,5	MCF-7	breast:
15	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
16	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
17	chr19:40926613..40929204-chr7:102713631..102716132,2	MCF-7	breast:
18	chr19:40926688..40928481-chr19:40969894..40971726,2	MCF-7	breast:
19	chr15:64451969..64454154-chr19:40925651..40928348,2	K562	blood:
20	chr19:40914819..40917676-chr19:40926759..40928384,2	MCF-7	breast:
21	chr19:40927385..40930245-chr19:41220973..41223399,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000086544	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10423800	1.00[EUR][1000 genomes]
rs268682	1.00[EUR][1000 genomes]
rs366973	1.00[EUR][1000 genomes]
rs398162	1.00[EUR][1000 genomes]
rs400195	1.00[EUR][1000 genomes]
rs403842	1.00[EUR][1000 genomes]
rs4150980	1.00[EUR][1000 genomes]
rs4150982	1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs922216	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40926400-40928000	Active TSS	Primary T cells from cord blood	blood
2	chr19:40926600-40928200	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr19:40926600-40928600	Active TSS	Right Ventricle	heart
4	chr19:40926800-40928000	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr19:40927000-40928000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:40927200-40928200	Weak transcription	Spleen	Spleen
7	chr19:40927200-40928600	Weak transcription	Gastric	stomach
8	chr19:40927400-40928000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:40927400-40928400	Weak transcription	Lung	lung
10	chr19:40927400-40928600	Weak transcription	Pancreas	Pancrea
11	chr19:40927400-40928600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr19:40927400-40929400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:40927400-40930600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:40927600-40928000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr19:40927600-40928000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr19:40927600-40928000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr19:40927600-40928000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:40927600-40928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:40927600-40928000	Enhancers	Fetal Kidney	kidney
20	chr19:40927600-40928000	Enhancers	Fetal Thymus	thymus
21	chr19:40927600-40928000	Enhancers	Small Intestine	intestine
22	chr19:40927600-40928200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:40927600-40928200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:40927600-40928200	Weak transcription	Liver	Liver
25	chr19:40927600-40928200	Weak transcription	Brain Angular Gyrus	brain
26	chr19:40927600-40928200	Enhancers	Colonic Mucosa	Colon
27	chr19:40927600-40928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:40927600-40928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:40927600-40928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:40927600-40928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:40927600-40928400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:40927600-40928400	Weak transcription	Aorta	Aorta
33	chr19:40927600-40928400	Weak transcription	Brain Anterior Caudate	brain
34	chr19:40927600-40928400	Weak transcription	Esophagus	oesophagus
35	chr19:40927600-40928400	Enhancers	Stomach Mucosa	stomach
36	chr19:40927600-40928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:40927600-40928600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40927600-40928600	Weak transcription	Ovary	ovary
39	chr19:40927600-40928600	Weak transcription	Right Atrium	heart
40	chr19:40927600-40929200	Enhancers	Fetal Heart	heart
41	chr19:40927600-40929600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:40927600-40930400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr19:40927600-40930400	Weak transcription	Brain Substantia Nigra	brain
44	chr19:40927600-40930400	Weak transcription	Fetal Brain Female	brain
45	chr19:40927600-40930600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:40927600-40930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40927600-40930600	Weak transcription	Brain Germinal Matrix	brain
48	chr19:40927800-40928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:40927800-40928000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:40927800-40928000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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