Variant report

Variant	rs148830913
Chromosome Location	chr7:26192843-26192844
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	chr7:26148861..26152196-chr7:26192517..26195999,3	K562	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
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000050344	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26191200-26193000	Active TSS	HSMM	muscle
2	chr7:26191200-26193400	Bivalent/Poised TSS	Osteobl	bone
3	chr7:26191200-26193800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:26191200-26194200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:26191400-26193000	Bivalent/Poised TSS	Psoas Muscle	Psoas
6	chr7:26191400-26193200	Active TSS	Small Intestine	intestine
7	chr7:26191400-26193400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:26191400-26193400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:26191400-26193800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:26191400-26193800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:26191400-26194000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:26191600-26193000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:26191600-26193000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:26191600-26193000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:26191600-26193000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:26191600-26193000	Active TSS	Colonic Mucosa	Colon
17	chr7:26191600-26193000	Active TSS	Gastric	stomach
18	chr7:26191600-26193000	Active TSS	NH-A	brain
19	chr7:26191600-26193200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
20	chr7:26191600-26193200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr7:26191600-26193200	Active TSS	A549	lung
22	chr7:26191600-26193400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:26191600-26193400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:26191600-26193600	Active TSS	GM12878-XiMat	blood
25	chr7:26191600-26193800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:26191800-26193000	Bivalent/Poised TSS	Left Ventricle	heart
27	chr7:26191800-26193200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:26191800-26193400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:26191800-26194000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:26192000-26193000	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr7:26192000-26193400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:26192000-26193800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:26192200-26193000	Bivalent/Poised TSS	NHLF	lung
34	chr7:26192200-26193200	Flanking Active TSS	HMEC	breast
35	chr7:26192200-26194200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr7:26192200-26194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:26192200-26194600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:26192400-26193000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr7:26192400-26193000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:26192400-26193200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr7:26192400-26193200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr7:26192400-26193400	Active TSS	Right Ventricle	heart
43	chr7:26192400-26193600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr7:26192600-26193000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:26192600-26193200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:26192600-26193200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr7:26192600-26193200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:26192600-26193200	Flanking Active TSS	Esophagus	oesophagus
49	chr7:26192600-26193200	Flanking Active TSS	Pancreas	Pancrea
50	chr7:26192600-26193400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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