Variant report

Variant	rs375516210
Chromosome Location	chr4:2846857-2846858
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2843889..2847586-chr4:2849028..2855037,6	K562	blood:
2	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
3	chr4:2756622..2759640-chr4:2845812..2847874,4	MCF-7	breast:
4	chr4:2818404..2821312-chr4:2845258..2848491,3	MCF-7	breast:
5	chr4:2844179..2847079-chr4:2935598..2937938,4	MCF-7	breast:
6	chr4:2824402..2830718-chr4:2842859..2847645,11	MCF-7	breast:
7	chr4:2757710..2760448-chr4:2844046..2847029,2	K562	blood:
8	chr4:2845404..2847784-chr4:2938194..2940916,3	MCF-7	breast:
9	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
10	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
11	chr4:2845175..2847151-chr4:2963481..2966387,2	MCF-7	breast:
12	chr4:2846050..2847976-chr4:2912063..2913866,2	MCF-7	breast:
13	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249673	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000125388	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	chr4:2844600-2847000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:2844600-2847400	Active TSS	Brain Angular Gyrus	brain
3	chr4:2844600-2847400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr4:2844600-2847400	Active TSS	Ovary	ovary
5	chr4:2844800-2847000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:2844800-2847000	Active TSS	Gastric	stomach
7	chr4:2844800-2847200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:2844800-2847200	Active TSS	Brain Cingulate Gyrus	brain
9	chr4:2844800-2847200	Active TSS	Small Intestine	intestine
10	chr4:2844800-2847200	Active TSS	HSMM	muscle
11	chr4:2844800-2847400	Active TSS	Psoas Muscle	Psoas
12	chr4:2844800-2847400	Active TSS	Right Ventricle	heart
13	chr4:2844800-2847400	Active TSS	NHDF-Ad	bronchial
14	chr4:2844800-2847600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:2844800-2847800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:2845000-2847000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:2845000-2847000	Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:2845000-2847000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:2845000-2847000	Active TSS	Colonic Mucosa	Colon
20	chr4:2845000-2847200	Active TSS	Brain Hippocampus Middle	brain
21	chr4:2845000-2847200	Active TSS	Fetal Brain Female	brain
22	chr4:2845000-2847200	Active TSS	A549	lung
23	chr4:2845000-2847400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:2845000-2847400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:2845000-2847400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:2845000-2847400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:2845000-2847400	Active TSS	Stomach Smooth Muscle	stomach
28	chr4:2845000-2847400	Active TSS	GM12878-XiMat	blood
29	chr4:2845000-2847400	Active TSS	HSMMtube	muscle
30	chr4:2845000-2847400	Active TSS	NHLF	lung
31	chr4:2845000-2847600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:2845000-2847600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:2845000-2847800	Active TSS	K562	blood
34	chr4:2845000-2848200	Active TSS	Brain Germinal Matrix	brain
35	chr4:2845200-2847200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:2845200-2847400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:2845200-2847400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:2846000-2847000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:2846000-2847200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:2846000-2847400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:2846000-2847400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr4:2846000-2847400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:2846000-2848200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:2846200-2847200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:2846200-2847200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:2846200-2847400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:2846200-2847400	Active TSS	Right Atrium	heart
48	chr4:2846200-2847800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr4:2846200-2848000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:2846200-2848200	Flanking Active TSS	Dnd41	blood

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