Variant report

Variant	rs543240011
Chromosome Location	chr4:48748726-48748727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48746546..48749317-chr4:48834031..48835783,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv594137	chr4:48748305-48763163	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48731600-48751000	Weak transcription	Lung	lung
2	chr4:48731600-48779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48741000-48751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:48742000-48758800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:48742000-48768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:48742600-48751200	Weak transcription	Esophagus	oesophagus
7	chr4:48742600-48768200	Weak transcription	Pancreas	Pancrea
8	chr4:48742800-48753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:48743200-48748800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:48744200-48749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:48744400-48749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:48744400-48750400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:48744600-48748800	Weak transcription	Brain Angular Gyrus	brain
14	chr4:48744600-48750400	Weak transcription	Right Ventricle	heart
15	chr4:48744600-48751200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:48744600-48752800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:48744600-48753000	Weak transcription	Osteobl	bone
18	chr4:48744800-48748800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:48744800-48749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:48744800-48750800	Weak transcription	Fetal Heart	heart
21	chr4:48744800-48753600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:48745000-48750000	Weak transcription	Psoas Muscle	Psoas
23	chr4:48745000-48750600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:48745000-48751200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:48745000-48751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:48745000-48765200	Weak transcription	Primary B cells from cord blood	blood
27	chr4:48745200-48749200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:48745800-48748800	Weak transcription	Dnd41	blood
29	chr4:48746800-48751200	Weak transcription	GM12878-XiMat	blood
30	chr4:48747000-48748800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:48747000-48748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:48747200-48751400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:48747200-48754800	Weak transcription	Fetal Stomach	stomach
34	chr4:48747200-48777200	Weak transcription	Fetal Intestine Small	intestine
35	chr4:48747400-48767800	Weak transcription	Fetal Intestine Large	intestine
36	chr4:48748000-48748800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:48748200-48748800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:48748200-48749000	Enhancers	Left Ventricle	heart
39	chr4:48748200-48749000	Enhancers	Right Atrium	heart
40	chr4:48748200-48749200	Enhancers	Fetal Thymus	thymus
41	chr4:48748200-48749400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr4:48748200-48749400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:48748200-48749400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:48748600-48748800	Enhancers	Spleen	Spleen
45	chr4:48748600-48749000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr4:48748600-48749000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:48748600-48749000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr4:48748600-48749000	Enhancers	Brain Hippocampus Middle	brain
49	chr4:48748600-48749000	Enhancers	Gastric	stomach
50	chr4:48748600-48749000	Enhancers	Ovary	ovary

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