Variant report

Variant	rs10422945
Chromosome Location	chr19:40864228-40864229
allele	C/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	CEBPB	chr19:40864088-40864327	IMR90	lung:	n/a	chr19:40864229-40864240
2	CEBPB	chr19:40864108-40864352	Hela-S3	cervix:	n/a	chr19:40864229-40864240
3	CEBPB	chr19:40864128-40864287	H1-hESC	embryonic stem cell:	n/a	chr19:40864229-40864240
4	CEBPB	chr19:40864105-40864320	HepG2	liver:	n/a	chr19:40864229-40864240

No.	Distal block	Cell Line	Cell type
1	chr19:40853920..40856703-chr19:40862603..40866302,4	K562	blood:
2	chr19:40854582..40856444-chr19:40862603..40865437,3	K562	blood:
3	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:

Variant related genes	Relation type
PLD3	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10408405	1.00[EUR][1000 genomes]
rs10412156	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	1.00[EUR][1000 genomes]
rs11881681	1.00[EUR][1000 genomes]
rs13345497	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13346024	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1865081	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs268665	1.00[MEX][hapmap]
rs28407044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529139	1.00[TSI][hapmap]
rs28679850	1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	1.00[EUR][1000 genomes]
rs4150995	1.00[TSI][hapmap]
rs55646097	1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs60115762	1.00[EUR][1000 genomes]
rs61018633	1.00[EUR][1000 genomes]
rs73559625	1.00[EUR][1000 genomes]
rs73559626	1.00[EUR][1000 genomes]
rs73559635	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]
rs9676315	1.00[MEX][hapmap];1.00[TSI][hapmap]

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	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855400-40864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:40855600-40864400	Weak transcription	Placenta	Placenta
3	chr19:40855600-40865200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:40855600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:40855600-40865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:40855600-40865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:40855600-40865200	Weak transcription	Thymus	Thymus
8	chr19:40855600-40865200	Weak transcription	A549	lung
9	chr19:40855600-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:40855600-40865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:40855600-40865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:40855600-40865800	Weak transcription	K562	blood
13	chr19:40855600-40866000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:40855600-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:40855600-40866200	Weak transcription	Esophagus	oesophagus
16	chr19:40855600-40866600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:40855600-40868800	Weak transcription	HSMM	muscle
19	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:40855600-40869000	Weak transcription	Osteobl	bone
21	chr19:40855600-40870600	Weak transcription	Gastric	stomach
22	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
25	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
29	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
30	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
31	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
32	chr19:40855600-40871000	Weak transcription	NHEK	skin
33	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
37	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
40	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
43	chr19:40855600-40871400	Weak transcription	NHLF	lung
44	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:40855600-40872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:40855600-40872600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:40855600-40873400	Weak transcription	Aorta	Aorta
48	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
49	chr19:40855800-40868800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:40855800-40871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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