Variant report

Variant	rs369283814
Chromosome Location	chr19:40696257-40696258
allele	A/C
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	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
2	REST	chr19:40696167-40699848	PANC-1	pancreas:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
3	PML	chr19:40696229-40697458	GM12878	blood:	n/a	chr19:40696726-40696734
4	SIN3AK20	chr19:40695285-40697463	PANC-1	pancreas:	n/a	n/a
5	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
6	RPC155	chr19:40695883-40696687	Hela-S3	cervix:	n/a	n/a
7	HCFC1	chr19:40696216-40698059	Hela-S3	cervix:	n/a	n/a
8	NFIC	chr19:40696237-40696877	GM12878	blood:	n/a	n/a
9	SREBP2	chr19:40695849-40697454	GM12878	blood:	n/a	n/a
10	MTA3	chr19:40696255-40697306	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:40696251-40697070	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:40696256-40697392	U87	brain:	n/a	n/a
13	FOSL2	chr19:40696247-40697429	A549	lung:	n/a	chr19:40697375-40697384
14	SIN3AK20	chr19:40696231-40700076	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40688006..40692388-chr19:40694622..40697525,4	K562	blood:
3	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
4	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:
5	chr19:40688598..40690270-chr19:40694622..40697425,2	K562	blood:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000207631	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv3426637	chr19:40696137-40698985	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40691600-40696400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr19:40694800-40696400	Weak transcription	NHEK	skin
3	chr19:40695000-40696400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr19:40695600-40696400	Enhancers	A549	lung
5	chr19:40695600-40696600	Enhancers	Fetal Brain Male	brain
6	chr19:40695800-40696400	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:40695800-40696400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:40695800-40696400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:40695800-40696400	Enhancers	Brain Cingulate Gyrus	brain
10	chr19:40695800-40696400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:40695800-40696400	Enhancers	HepG2	liver
12	chr19:40695800-40696400	Enhancers	NHLF	lung
13	chr19:40695800-40698000	Active TSS	GM12878-XiMat	blood
14	chr19:40695800-40698600	Active TSS	Osteobl	bone
15	chr19:40696000-40696400	Enhancers	Primary B cells from cord blood	blood
16	chr19:40696000-40696400	Active TSS	Hela-S3	cervix
17	chr19:40696000-40696600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain
20	chr19:40696200-40696400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:40696200-40696400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr19:40696200-40696400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:40696200-40696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:40696200-40696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:40696200-40696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:40696200-40696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:40696200-40696400	Enhancers	Fetal Muscle Leg	muscle
28	chr19:40696200-40696400	Enhancers	Placenta	Placenta
29	chr19:40696200-40696400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr19:40696200-40696400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:40696200-40696600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:40696200-40696600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:40696200-40696600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:40696200-40696800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:40696200-40696800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:40696200-40696800	Active TSS	Colonic Mucosa	Colon
37	chr19:40696200-40697000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:40696200-40697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
42	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
43	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
44	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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