Variant report

Variant	rs558958400
Chromosome Location	chr3:47203424-47203425
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	BCLAF1	chr3:47203416-47203904	GM12878	blood:	n/a	chr3:47203679-47203688
2	CHD1	chr3:47203409-47206971	IMR90	lung:	n/a	chr3:47205244-47205254
3	SPI1	chr3:47203229-47203916	GM12878	blood:	n/a	chr3:47203679-47203688 chr3:47203673-47203686

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47185004..47187148-chr3:47202667..47204488,3	K562	blood:
2	chr3:47203222..47204974-chr3:47216567..47218199,2	K562	blood:

Variant related genes	Relation type
KIF9-AS1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv3801	chr3:47201530-47246438	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:47194400-47203600	Weak transcription	NH-A	brain
4	chr3:47196400-47203600	Enhancers	Liver	Liver
5	chr3:47196600-47203600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:47197000-47203600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:47197000-47203600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:47197000-47203800	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:47197000-47203800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:47197200-47203800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:47197200-47203800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:47197400-47204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:47198000-47203600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:47198200-47203600	Weak transcription	Fetal Kidney	kidney
15	chr3:47198200-47203600	Weak transcription	NHDF-Ad	bronchial
16	chr3:47198400-47204000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:47198800-47203600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:47198800-47204000	Weak transcription	Aorta	Aorta
19	chr3:47198800-47204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:47198800-47204200	Weak transcription	Lung	lung
21	chr3:47199200-47203600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:47199400-47203600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:47199800-47203600	Enhancers	Thymus	Thymus
24	chr3:47199800-47204000	Enhancers	Brain Substantia Nigra	brain
25	chr3:47199800-47204000	Enhancers	Small Intestine	intestine
26	chr3:47200200-47204000	Enhancers	Brain Angular Gyrus	brain
27	chr3:47200400-47203800	Enhancers	Brain Anterior Caudate	brain
28	chr3:47200400-47203800	Enhancers	Brain Germinal Matrix	brain
29	chr3:47200400-47203800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:47200400-47204000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:47200600-47203600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:47200600-47203600	Enhancers	Brain Hippocampus Middle	brain
33	chr3:47200600-47203600	Enhancers	Fetal Heart	heart
34	chr3:47200600-47203800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:47200800-47203800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr3:47200800-47203800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr3:47200800-47204000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:47200800-47204000	Enhancers	Stomach Mucosa	stomach
39	chr3:47201000-47203600	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:47201000-47203600	Weak transcription	Osteobl	bone
41	chr3:47201000-47204000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr3:47201200-47203600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr3:47201200-47203600	Enhancers	Fetal Muscle Leg	muscle
44	chr3:47201400-47203600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:47201400-47203600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:47201400-47204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:47201400-47204200	Weak transcription	Placenta	Placenta
48	chr3:47202000-47203600	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:47202000-47203800	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:47202000-47204000	Enhancers	Fetal Brain Male	brain

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