Variant report

Variant	rs56140231
Chromosome Location	chr4:7104093-7104094
allele	C/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7103913..7106622-chr4:7111535..7115141,3	K562	blood:
2	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
3	chr4:6783899..6786313-chr4:7103315..7105730,2	K562	blood:
4	chr4:7103913..7105517-chr4:7112314..7115141,2	K562	blood:
5	chr4:7103774..7104291-chr4:7158329..7158835,2	MCF-7	breast:
6	chr4:7098558..7101540-chr4:7102623..7104219,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000170871	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000200867	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4689595	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61737580	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845521	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7103000-7104600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7103000-7104600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:7103000-7104600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:7103200-7105400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:7103400-7104200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr4:7103400-7104600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7103400-7104600	Enhancers	Spleen	Spleen
8	chr4:7103400-7105200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:7103600-7104200	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr4:7103600-7104200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:7103600-7104200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr4:7103600-7104200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr4:7103600-7104200	Enhancers	Fetal Heart	heart
14	chr4:7103600-7104400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:7103600-7104400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr4:7103600-7104400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr4:7103600-7104400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:7103600-7104400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:7103600-7104400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr4:7103600-7104400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr4:7103600-7104400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr4:7103600-7104400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:7103600-7104400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr4:7103600-7104600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr4:7103600-7104600	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:7103600-7104600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr4:7103600-7104600	Enhancers	Esophagus	oesophagus
28	chr4:7103600-7104600	Enhancers	Fetal Lung	lung
29	chr4:7103600-7104600	Enhancers	Pancreas	Pancrea
30	chr4:7103600-7104600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:7103600-7104600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr4:7103600-7104600	Flanking Active TSS	GM12878-XiMat	blood
33	chr4:7103600-7104600	Enhancers	HMEC	breast
34	chr4:7103600-7104600	Enhancers	HUVEC	blood vessel
35	chr4:7103600-7104800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr4:7103600-7104800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:7103600-7104800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:7103600-7104800	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr4:7103600-7105000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr4:7103600-7105000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:7103600-7105000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr4:7103600-7105000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:7103600-7105000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:7103600-7105400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr4:7103600-7105400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:7103600-7105400	Active TSS	Brain Germinal Matrix	brain
47	chr4:7103600-7105600	Active TSS	A549	lung
48	chr4:7103600-7105600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:7103600-7105800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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