Variant report

Variant	rs202035880
Chromosome Location	chr19:40698641-40698642
allele	-/GCC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
2	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
3	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000221051	Chromatin interaction
ENSG00000174521	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40696400-40698800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:40696400-40698800	Active TSS	HSMM	muscle
3	chr19:40696600-40698800	Active TSS	Fetal Intestine Large	intestine
4	chr19:40696600-40699000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:40696800-40699000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:40697800-40698800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:40697800-40699000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr19:40697800-40699000	Flanking Active TSS	Colonic Mucosa	Colon
9	chr19:40697800-40699000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:40697800-40699200	Flanking Active TSS	Dnd41	blood
11	chr19:40697800-40699400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr19:40698000-40698800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:40698000-40698800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:40698000-40698800	Enhancers	Primary B cells from cord blood	blood
15	chr19:40698000-40698800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr19:40698000-40698800	Flanking Active TSS	Pancreas	Pancrea
17	chr19:40698000-40698800	Flanking Active TSS	HMEC	breast
18	chr19:40698000-40699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:40698000-40699000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:40698000-40699000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr19:40698000-40699000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:40698000-40699000	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr19:40698000-40699000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:40698000-40699000	Flanking Active TSS	A549	lung
25	chr19:40698000-40699000	Flanking Active TSS	GM12878-XiMat	blood
26	chr19:40698000-40699000	Flanking Active TSS	NH-A	brain
27	chr19:40698000-40699200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr19:40698000-40699200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr19:40698000-40699200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:40698000-40699200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:40698000-40699600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:40698000-40711400	Weak transcription	Fetal Kidney	kidney
33	chr19:40698200-40698800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:40698200-40698800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:40698200-40698800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:40698200-40698800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr19:40698200-40698800	Enhancers	Fetal Thymus	thymus
38	chr19:40698200-40698800	Flanking Active TSS	Gastric	stomach
39	chr19:40698200-40698800	Flanking Active TSS	Ovary	ovary
40	chr19:40698200-40699000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr19:40698200-40699000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:40698200-40699000	Enhancers	Primary T cells from cord blood	blood
43	chr19:40698200-40699000	Weak transcription	Aorta	Aorta
44	chr19:40698200-40699000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr19:40698200-40699000	Enhancers	Fetal Heart	heart
46	chr19:40698200-40699000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr19:40698200-40699200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:40698200-40699200	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr19:40698200-40699200	Enhancers	Fetal Lung	lung
50	chr19:40698200-40699200	Enhancers	Placenta	Placenta

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