Variant report

Variant	rs548216552
Chromosome Location	chr7:65843368-65843369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv970513	chr7:65842694-65860742	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981506	chr7:65842694-65876873	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv32937	chr7:65842976-65844524	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
3	chr7:65817000-65843400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:65817600-65844200	Weak transcription	Right Atrium	heart
5	chr7:65817600-65844600	Weak transcription	Fetal Brain Female	brain
6	chr7:65819200-65844200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:65822000-65843800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:65823400-65843600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:65824800-65843600	Weak transcription	Esophagus	oesophagus
10	chr7:65825000-65844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:65825200-65844200	Weak transcription	NHLF	lung
12	chr7:65827000-65843800	Weak transcription	NHEK	skin
13	chr7:65831800-65844200	Weak transcription	NHDF-Ad	bronchial
14	chr7:65832000-65844200	Weak transcription	Fetal Lung	lung
15	chr7:65836400-65843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:65836600-65846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:65838400-65843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:65838800-65844600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:65839000-65844000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:65839000-65844000	Weak transcription	Placenta	Placenta
21	chr7:65839000-65844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:65839200-65843800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:65839400-65843800	Weak transcription	Ovary	ovary
24	chr7:65839400-65844400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:65839400-65844600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:65839600-65843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:65839800-65843600	Strong transcription	Fetal Stomach	stomach
28	chr7:65839800-65843600	Weak transcription	HMEC	breast
29	chr7:65839800-65843800	Weak transcription	Primary T cells from cord blood	blood
30	chr7:65839800-65844000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:65839800-65844200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:65839800-65844200	Weak transcription	Brain Anterior Caudate	brain
33	chr7:65839800-65845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:65840000-65843600	Weak transcription	Colonic Mucosa	Colon
35	chr7:65840000-65878400	Weak transcription	Psoas Muscle	Psoas
36	chr7:65840200-65844800	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:65840400-65844400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:65840400-65844400	Weak transcription	HepG2	liver
39	chr7:65840400-65873400	Weak transcription	K562	blood
40	chr7:65840600-65858400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:65841000-65843800	Weak transcription	Brain Substantia Nigra	brain
42	chr7:65841200-65843800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:65841200-65844000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:65841200-65844200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:65841200-65844400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:65841200-65847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:65841400-65844000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:65841400-65844000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:65841400-65844200	Weak transcription	Left Ventricle	heart
50	chr7:65841400-65875400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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