Variant report

Variant	rs187008970
Chromosome Location	chr19:40746677-40746678
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	EBF1	chr19:40746542-40746729	GM12878	blood:	n/a	chr19:40746652-40746663 chr19:40746634-40746645
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
3	EBF1	chr19:40746578-40746709	GM12878	blood:	n/a	chr19:40746652-40746663 chr19:40746634-40746645

No.	Distal block	Cell Line	Cell type
1	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
2	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
3	chr19:40746507..40749034-chr19:40749901..40751932,2	K562	blood:
4	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1059094	chr19:40745377-40758235	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
3	chr19:40735800-40748200	Weak transcription	Psoas Muscle	Psoas
4	chr19:40737600-40748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:40737600-40749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40737600-40751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:40738000-40747000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:40738000-40748600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr19:40738000-40748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:40738000-40749000	Strong transcription	Thymus	Thymus
11	chr19:40738000-40751600	Strong transcription	Dnd41	blood
12	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:40738200-40748200	Strong transcription	Pancreas	Pancrea
14	chr19:40738200-40748600	Strong transcription	NHLF	lung
15	chr19:40738200-40748800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:40738200-40749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr19:40738400-40746800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:40738400-40749400	Strong transcription	Fetal Thymus	thymus
20	chr19:40738400-40749600	Strong transcription	Fetal Brain Female	brain
21	chr19:40738600-40747200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr19:40738600-40747200	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:40738600-40747600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:40738600-40747600	Strong transcription	Lung	lung
25	chr19:40738600-40748600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:40738800-40747200	Strong transcription	Brain Hippocampus Middle	brain
27	chr19:40738800-40747600	Weak transcription	Right Atrium	heart
28	chr19:40738800-40748400	Strong transcription	Colonic Mucosa	Colon
29	chr19:40738800-40748600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr19:40738800-40748800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:40738800-40749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr19:40738800-40750800	Weak transcription	Fetal Heart	heart
33	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr19:40739000-40747400	Strong transcription	Right Ventricle	heart
35	chr19:40739000-40747600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:40739000-40747600	Strong transcription	Brain Germinal Matrix	brain
37	chr19:40739000-40747600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:40739000-40747600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr19:40739000-40748000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:40739000-40748600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr19:40739000-40748600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:40739000-40748600	Strong transcription	Gastric	stomach
43	chr19:40739000-40749000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:40739000-40749400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:40739000-40751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:40739200-40747200	Strong transcription	Adipose Nuclei	Adipose
47	chr19:40739200-40747400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:40739200-40747600	Strong transcription	Esophagus	oesophagus
49	chr19:40739200-40747600	Strong transcription	Fetal Muscle Leg	muscle
50	chr19:40739200-40748400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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