Variant report

Variant	rs367554393
Chromosome Location	chr4:7103579-7103580
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
2	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:
3	chr4:7098558..7101540-chr4:7102623..7104219,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRPEL1-1	chr4:7102967-7105112	ENSG00000245468

Variant related genes	Relation type
ENSG00000173013	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000170871	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878534	chr4:7084985-7121880	Active TSS Weak transcription Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
8	nsv878535	chr4:7093834-7135912	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461191	chr4:7102597-7129001	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv878536	chr4:7102597-7142868	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878537	chr4:7102597-7153642	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv878538	chr4:7102597-7158467	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7091600-7103600	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7092000-7103600	Weak transcription	Aorta	Aorta
3	chr4:7092000-7103600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7098200-7103600	Weak transcription	Fetal Brain Male	brain
5	chr4:7100600-7103800	Weak transcription	HSMMtube	muscle
6	chr4:7102000-7103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:7103000-7103600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:7103000-7103600	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:7103000-7103600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:7103000-7103600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:7103000-7103600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:7103000-7103600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:7103000-7103600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:7103000-7103600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:7103000-7103600	Enhancers	Brain Substantia Nigra	brain
16	chr4:7103000-7103600	Enhancers	Thymus	Thymus
17	chr4:7103000-7103800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:7103000-7104600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7103000-7104600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:7103000-7104600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:7103200-7103600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:7103200-7103600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7103200-7103600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:7103200-7103600	Enhancers	Primary T cells from cord blood	blood
25	chr4:7103200-7103600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr4:7103200-7103600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr4:7103200-7103600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:7103200-7103600	Enhancers	Brain Anterior Caudate	brain
29	chr4:7103200-7103600	Enhancers	Brain Cingulate Gyrus	brain
30	chr4:7103200-7103600	Enhancers	Fetal Brain Female	brain
31	chr4:7103200-7103600	Enhancers	Fetal Stomach	stomach
32	chr4:7103200-7103600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:7103200-7104000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:7103200-7104000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:7103200-7104000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:7103200-7105400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr4:7103400-7103600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:7103400-7103600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr4:7103400-7103600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:7103400-7103600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:7103400-7103600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:7103400-7103600	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr4:7103400-7103600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:7103400-7103600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:7103400-7103600	Enhancers	Brain Hippocampus Middle	brain
46	chr4:7103400-7103600	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:7103400-7103600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:7103400-7103600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:7103400-7103600	Active TSS	GM12878-XiMat	blood
50	chr4:7103400-7103600	Enhancers	HSMM	muscle

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