Variant report

Variant	rs374400723
Chromosome Location	chr19:40721133-40721134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40721117..40723953-chr19:40725760..40727528,2	K562	blood:
2	chr19:40677692..40680136-chr19:40719454..40721512,2	K562	blood:
3	chr19:40719578..40724896-chr19:40726262..40733162,10	MCF-7	breast:
4	chr19:40721100..40722836-chr19:40775767..40777934,2	MCF-7	breast:
5	chr19:40697182..40698721-chr19:40720965..40722825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv911703	chr19:40711333-40730279	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv911704	chr19:40716652-40730279	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv911705	chr19:40716652-40731371	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv3371347	chr19:40717612-40722010	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv9728	chr19:40720726-40721987	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
4	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40699200-40721200	Weak transcription	NH-A	brain
8	chr19:40699200-40721400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:40699400-40721200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:40699600-40722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:40699600-40722200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40707000-40722400	Weak transcription	HMEC	breast
13	chr19:40709800-40722000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:40710600-40721200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr19:40710600-40722200	Weak transcription	Primary B cells from cord blood	blood
16	chr19:40711200-40721800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:40711200-40731800	Weak transcription	Right Atrium	heart
18	chr19:40711600-40721800	Weak transcription	Fetal Brain Male	brain
19	chr19:40711600-40722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:40712200-40722400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:40712200-40722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40712200-40722600	Weak transcription	Esophagus	oesophagus
23	chr19:40713200-40725200	Weak transcription	Hela-S3	cervix
24	chr19:40714200-40722000	Strong transcription	Brain Germinal Matrix	brain
25	chr19:40714800-40721200	Strong transcription	Brain Hippocampus Middle	brain
26	chr19:40714800-40721800	Weak transcription	Fetal Lung	lung
27	chr19:40715000-40721400	Strong transcription	Fetal Brain Female	brain
28	chr19:40716000-40722200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:40716200-40722600	Weak transcription	K562	blood
30	chr19:40716400-40721400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:40717200-40721600	Weak transcription	Liver	Liver
32	chr19:40717200-40721800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:40717200-40722000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:40717200-40722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:40717200-40722000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:40717200-40722000	Weak transcription	Fetal Intestine Large	intestine
37	chr19:40717200-40722000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:40717200-40722000	Weak transcription	NHLF	lung
39	chr19:40717200-40722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:40717200-40722200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:40717200-40722200	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:40717200-40722200	Weak transcription	Thymus	Thymus
43	chr19:40717200-40722400	Weak transcription	Pancreas	Pancrea
44	chr19:40717400-40721400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:40717600-40721800	Weak transcription	Osteobl	bone
46	chr19:40717600-40722000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:40717800-40722600	Weak transcription	Brain Angular Gyrus	brain
48	chr19:40718000-40722000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:40718200-40722000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:40718200-40722200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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