Variant report

Variant	rs562992586
Chromosome Location	chr4:6895413-6895414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6885538..6887515-chr4:6893779..6896691,2	MCF-7	breast:
2	chr4:6734514..6737444-chr4:6894118..6897087,2	K562	blood:
3	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
4	chr4:6892678..6895514-chr4:6919772..6922371,2	K562	blood:
5	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
6	chr4:6889053..6892272-chr4:6892737..6895879,4	K562	blood:
7	chr4:6883009..6885178-chr4:6892808..6895702,2	K562	blood:
8	chr4:6894765..6897271-chr4:7068956..7071796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109519	Chromatin interaction
ENSG00000132405	Chromatin interaction

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	nsv4216	chr4:6876592-6915629	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3491705	chr4:6894126-6901649	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3491706	chr4:6894126-6901649	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3485871	chr4:6894726-6896135	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3485873	chr4:6894729-6896245	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3485870	chr4:6894758-6896269	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3466977	chr4:6894765-6896148	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3466978	chr4:6894765-6896148	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3485872	chr4:6894781-6896099	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3485874	chr4:6894788-6896141	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3485876	chr4:6894838-6896077	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv18180	chr4:6895182-6900570	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6891400-6896000	Enhancers	Primary hematopoietic stem cells	blood
2	chr4:6892000-6895600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:6893000-6895800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:6893400-6895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:6893400-6896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:6893400-6896800	Enhancers	Fetal Intestine Small	intestine
7	chr4:6893400-6897000	Enhancers	Fetal Intestine Large	intestine
8	chr4:6893600-6895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:6893600-6895800	Enhancers	Fetal Kidney	kidney
10	chr4:6893800-6895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:6893800-6895600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:6893800-6896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:6894000-6895600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:6894400-6895800	Enhancers	Primary B cells from cord blood	blood
15	chr4:6894400-6896000	Enhancers	Stomach Mucosa	stomach
16	chr4:6894400-6896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:6894400-6896400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:6894400-6896400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:6894400-6896400	Enhancers	Colonic Mucosa	Colon
20	chr4:6894400-6896400	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:6894400-6896400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:6894400-6896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:6894400-6896800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:6894400-6897000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:6894400-6897400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr4:6894400-6897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:6894400-6900600	Weak transcription	Primary T cells from cord blood	blood
28	chr4:6894600-6895600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:6894600-6895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:6894600-6895600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:6894600-6895800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:6894600-6895800	Enhancers	Osteobl	bone
33	chr4:6894600-6897000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr4:6894600-6903000	Weak transcription	HSMM	muscle
35	chr4:6894600-6903600	Weak transcription	Right Atrium	heart
36	chr4:6894800-6896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:6894800-6896600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:6894800-6896800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:6894800-6897600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:6894800-6900600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:6894800-6900600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:6895000-6895600	Weak transcription	NHLF	lung
43	chr4:6895200-6895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:6895200-6895600	Enhancers	Pancreas	Pancrea
45	chr4:6895400-6895600	Enhancers	A549	lung
46	chr4:6895400-6895600	Enhancers	HepG2	liver
47	chr4:6895400-6895600	Enhancers	HSMMtube	muscle
48	chr4:6895400-6895800	Enhancers	Liver	Liver
49	chr4:6895400-6896000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:6895400-6896000	Enhancers	K562	blood

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