Variant report

Variant	rs4150984
Chromosome Location	chr19:40932777-40932778
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40932720-40933684	HepG2	liver:	n/a	n/a
2	SIX5	chr19:40930476-40932832	A549	lung:	n/a	n/a
3	MAX	chr19:40930382-40932802	A549	lung:	n/a	chr19:40931960-40931970
4	E2F6	chr19:40931592-40932796	H1-hESC	embryonic stem cell:	n/a	chr19:40931817-40931826 chr19:40932434-40932445 chr19:40931834-40931844 chr19:40931786-40931795
5	E2F6	chr19:40930838-40932819	A549	lung:	n/a	chr19:40931817-40931826 chr19:40932434-40932445 chr19:40931542-40931551 chr19:40931834-40931844 chr19:40931537-40931547 chr19:40931786-40931795 chr19:40931540-40931550

No.	Distal block	Cell Line	Cell type
1	chr19:40931365..40932880-chr19:41075403..41076954,2	K562	blood:
2	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
3	chr19:40930238..40933445-chr19:40968934..40973094,5	MCF-7	breast:
4	chr19:40930916..40933044-chr19:41115894..41119159,3	MCF-7	breast:
5	chr19:40929000..40933496-chr19:40948111..40953156,29	MCF-7	breast:
6	chr19:40930494..40933522-chr19:41110007..41112597,3	K562	blood:
7	chr19:40929690..40933044-chr19:40967590..40972827,9	MCF-7	breast:
8	chr19:40929942..40935093-chr19:40947472..40955743,23	K562	blood:
9	chr19:40929630..40934621-chr19:40969030..40973237,9	K562	blood:
10	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
11	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
12	chr19:40853951..40856077-chr19:40931313..40932883,2	MCF-7	breast:
13	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
14	chr19:40930456..40933734-chr19:41119113..41120830,3	K562	blood:
15	chr19:40929828..40933213-chr19:41114237..41116915,3	MCF-7	breast:

Variant related genes	Relation type
SERTAD1	TF binding region
ENSG00000090013	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000105223	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10408405	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412156	1.00[EUR][1000 genomes]
rs10422945	1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881681	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13345497	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346024	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28679850	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs55646097	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs59129285	1.00[EUR][1000 genomes]
rs60115762	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs7256097	0.87[AFR][1000 genomes]
rs73559625	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559626	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559635	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933256	1.00[EUR][1000 genomes]
rs73933258	1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933270	1.00[EUR][1000 genomes]
rs73933276	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40929600-40933000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:40930000-40932800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:40930200-40933200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:40930400-40933000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:40931600-40932800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40932400-40933000	Active TSS	HepG2	liver
7	chr19:40932400-40938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:40932600-40932800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr19:40932600-40932800	Enhancers	A549	lung
10	chr19:40932600-40933000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:40932600-40933000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:40932600-40933000	Enhancers	Thymus	Thymus
13	chr19:40932600-40933200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:40932600-40933200	Enhancers	Colonic Mucosa	Colon
15	chr19:40932600-40933200	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:40932600-40933200	Enhancers	Pancreas	Pancrea
17	chr19:40932600-40933200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr19:40932600-40933400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr19:40932600-40933400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr19:40932600-40933400	Enhancers	Hela-S3	cervix
21	chr19:40932600-40933400	Enhancers	HMEC	breast
22	chr19:40932600-40933400	Enhancers	K562	blood
23	chr19:40932600-40934800	Weak transcription	Esophagus	oesophagus
24	chr19:40932600-40935000	Weak transcription	Placenta	Placenta
25	chr19:40932600-40937200	Weak transcription	Fetal Lung	lung
26	chr19:40932600-40937400	Weak transcription	Fetal Stomach	stomach
27	chr19:40932600-40937600	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:40932600-40937800	Weak transcription	Fetal Heart	heart
29	chr19:40932600-40937800	Weak transcription	Fetal Kidney	kidney
30	chr19:40932600-40938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:40932600-40938000	Weak transcription	Adipose Nuclei	Adipose
32	chr19:40932600-40938000	Weak transcription	Fetal Intestine Small	intestine
33	chr19:40932600-40938200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:40932600-40938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:40932600-40938400	Weak transcription	Liver	Liver
36	chr19:40932600-40938400	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:40932600-40938400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:40932600-40938400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr19:40932600-40938400	Weak transcription	HSMM	muscle
40	chr19:40932600-40938600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:40932600-40938600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:40932600-40938600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:40932600-40938600	Weak transcription	Right Atrium	heart
44	chr19:40932600-40939000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:40932600-40939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:40932600-40939200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr19:40932600-40939200	Weak transcription	Primary T cells from cord blood	blood
48	chr19:40932600-40939200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:40932600-40939200	Weak transcription	GM12878-XiMat	blood

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