Variant report

Variant	rs199866647
Chromosome Location	chr19:40698365-40698366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
3	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
4	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
5	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000174521	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000221051	Chromatin interaction
ENSG00000207631	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
10	esv3389051	chr19:40696662-40698860	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3427944	chr19:40696737-40699285	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40695800-40698600	Active TSS	Osteobl	bone
2	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain
4	chr19:40696400-40698400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr19:40696400-40698400	Active TSS	K562	blood
6	chr19:40696400-40698600	Active TSS	Colon Smooth Muscle	Colon
7	chr19:40696400-40698600	Active TSS	HSMMtube	muscle
8	chr19:40696400-40698800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:40696400-40698800	Active TSS	HSMM	muscle
10	chr19:40696600-40698400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40696600-40698400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:40696600-40698400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:40696600-40698400	Active TSS	Fetal Intestine Small	intestine
14	chr19:40696600-40698600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:40696600-40698600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:40696600-40698600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:40696600-40698800	Active TSS	Fetal Intestine Large	intestine
18	chr19:40696600-40699000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:40696800-40698400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:40696800-40698400	Active TSS	NHLF	lung
21	chr19:40696800-40698600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:40696800-40698600	Active TSS	Hela-S3	cervix
23	chr19:40696800-40699000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:40697000-40698400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:40697000-40698400	Active TSS	Fetal Brain Female	brain
26	chr19:40697800-40698400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:40697800-40698400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr19:40697800-40698400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:40697800-40698400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr19:40697800-40698400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr19:40697800-40698600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:40697800-40698600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr19:40697800-40698600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:40697800-40698600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:40697800-40698600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:40697800-40698600	Flanking Active TSS	Liver	Liver
37	chr19:40697800-40698600	Flanking Active TSS	Right Ventricle	heart
38	chr19:40697800-40698600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr19:40697800-40698800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:40697800-40699000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr19:40697800-40699000	Flanking Active TSS	Colonic Mucosa	Colon
42	chr19:40697800-40699000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr19:40697800-40699200	Flanking Active TSS	Dnd41	blood
44	chr19:40697800-40699400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr19:40698000-40698400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:40698000-40698400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:40698000-40698400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:40698000-40698400	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr19:40698000-40698400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:40698000-40698400	Flanking Active TSS	Brain Cingulate Gyrus	brain

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