Variant report

Variant	rs560298780
Chromosome Location	chr4:2847583-2847584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2843889..2847586-chr4:2849028..2855037,6	K562	blood:
2	chr4:2847502..2850014-chr4:2935362..2937925,4	MCF-7	breast:
3	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
4	chr4:2756622..2759640-chr4:2845812..2847874,4	MCF-7	breast:
5	chr4:2818404..2821312-chr4:2845258..2848491,3	MCF-7	breast:
6	chr4:2824402..2830718-chr4:2842859..2847645,11	MCF-7	breast:
7	chr4:2845404..2847784-chr4:2938194..2940916,3	MCF-7	breast:
8	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
9	chr4:2846050..2847976-chr4:2912063..2913866,2	MCF-7	breast:
10	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000087274	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2844800-2847600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:2844800-2847800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:2845000-2847600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:2845000-2847600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:2845000-2847800	Active TSS	K562	blood
6	chr4:2845000-2848200	Active TSS	Brain Germinal Matrix	brain
7	chr4:2846000-2848200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr4:2846200-2847800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr4:2846200-2848000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:2846200-2848200	Flanking Active TSS	Dnd41	blood
11	chr4:2846400-2847800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:2846400-2847800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr4:2846400-2848200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr4:2846400-2851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:2846600-2847800	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr4:2846600-2854400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:2846600-2862400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:2846800-2847600	Enhancers	Fetal Heart	heart
19	chr4:2846800-2847600	Flanking Active TSS	NHEK	skin
20	chr4:2846800-2847800	Enhancers	Fetal Kidney	kidney
21	chr4:2846800-2847800	Enhancers	HMEC	breast
22	chr4:2846800-2847800	Enhancers	NH-A	brain
23	chr4:2846800-2848000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:2846800-2848000	Enhancers	Fetal Stomach	stomach
25	chr4:2846800-2848000	Enhancers	Stomach Mucosa	stomach
26	chr4:2846800-2848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:2846800-2848400	Enhancers	Liver	Liver
28	chr4:2846800-2848400	Weak transcription	Lung	lung
29	chr4:2846800-2849000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:2846800-2849200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:2846800-2849400	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:2846800-2851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:2846800-2854200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:2846800-2855400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:2846800-2855400	Weak transcription	Placenta	Placenta
36	chr4:2846800-2855600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:2846800-2857400	Weak transcription	Aorta	Aorta
38	chr4:2846800-2861800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:2846800-2861800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:2846800-2862000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:2846800-2862600	Weak transcription	Esophagus	oesophagus
42	chr4:2847000-2847600	Active TSS	Brain Anterior Caudate	brain
43	chr4:2847000-2847600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:2847000-2847800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:2847000-2847800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr4:2847000-2848200	Enhancers	Fetal Intestine Small	intestine
47	chr4:2847000-2848200	Enhancers	Hela-S3	cervix
48	chr4:2847000-2848400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:2847000-2848400	Weak transcription	Pancreas	Pancrea
50	chr4:2847000-2849000	Weak transcription	Spleen	Spleen

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