Variant report

Variant	rs540294649
Chromosome Location	chr7:26191984-26191985
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	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
2	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
3	chr19:16186941..16187691-chr7:26191732..26192335,2	NB4	blood:
4	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
5	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
6	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
7	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
8	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
9	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:
10	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050344	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000167460	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
6	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	esv3341117	chr7:26191052-26193600	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3392243	chr7:26191177-26193275	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26191000-26192200	Active TSS	NHLF	lung
2	chr7:26191000-26192400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
3	chr7:26191200-26192800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:26191200-26193000	Active TSS	HSMM	muscle
5	chr7:26191200-26193400	Bivalent/Poised TSS	Osteobl	bone
6	chr7:26191200-26193800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr7:26191200-26194200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:26191400-26192000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:26191400-26192000	Bivalent/Poised TSS	NHDF-Ad	bronchial
10	chr7:26191400-26192200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:26191400-26192200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:26191400-26192400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:26191400-26192400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr7:26191400-26192400	Flanking Active TSS	Right Ventricle	heart
15	chr7:26191400-26192600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:26191400-26192600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr7:26191400-26192600	Active TSS	Esophagus	oesophagus
18	chr7:26191400-26192600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:26191400-26192600	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:26191400-26192800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:26191400-26192800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:26191400-26192800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr7:26191400-26193000	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr7:26191400-26193200	Active TSS	Small Intestine	intestine
25	chr7:26191400-26193400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:26191400-26193400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:26191400-26193800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:26191400-26193800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:26191400-26194000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:26191600-26192000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:26191600-26192000	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:26191600-26192000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr7:26191600-26192200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:26191600-26192200	Active TSS	Pancreas	Pancrea
35	chr7:26191600-26192200	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:26191600-26192400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:26191600-26192400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr7:26191600-26192400	Active TSS	Brain Hippocampus Middle	brain
39	chr7:26191600-26192400	Active TSS	Ovary	ovary
40	chr7:26191600-26192400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:26191600-26192400	Active TSS	HSMMtube	muscle
42	chr7:26191600-26192600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr7:26191600-26192600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:26191600-26192600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:26191600-26192600	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr7:26191600-26192600	Active TSS	Primary B cells from peripheral blood	blood
47	chr7:26191600-26192600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:26191600-26192600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:26191600-26192600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:26191600-26192600	Active TSS	Adipose Nuclei	Adipose

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