Variant report

Variant	rs7553055
Chromosome Location	chr1:211786816-211786817
allele	A/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211785288..211788085-chr1:212796796..212799464,2	K562	blood:
2	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211773176..211775431-chr1:211786390..211787967,2	K562	blood:
5	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
6	chr1:211765108..211767517-chr1:211786699..211788894,2	K562	blood:
7	chr1:210546260..210548360-chr1:211786384..211787956,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162771	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000261314	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55657443	0.84[EUR][1000 genomes]
rs7553069	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9429875	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:211782200-211787400	Weak transcription	Small Intestine	intestine
4	chr1:211782800-211787400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:211784000-211787000	Enhancers	Colon Smooth Muscle	Colon
6	chr1:211784000-211787800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:211784000-211788400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:211784200-211787000	Enhancers	Spleen	Spleen
9	chr1:211784200-211789200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:211784400-211787400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:211784400-211787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:211784400-211788400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:211784600-211789400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:211784800-211788400	Enhancers	Placenta	Placenta
15	chr1:211785000-211789400	Weak transcription	Liver	Liver
16	chr1:211785000-211789800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:211785200-211788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:211785200-211789400	Weak transcription	Fetal Lung	lung
19	chr1:211785200-211790000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:211785400-211787800	Enhancers	HepG2	liver
21	chr1:211785400-211788800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:211785400-211789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:211785400-211789600	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:211785600-211788400	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:211785600-211794800	Weak transcription	Brain Anterior Caudate	brain
26	chr1:211786000-211787000	Enhancers	Left Ventricle	heart
27	chr1:211786000-211787200	Enhancers	Right Ventricle	heart
28	chr1:211786000-211787600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:211786000-211787600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:211786000-211787600	Enhancers	Adipose Nuclei	Adipose
31	chr1:211786000-211788200	Enhancers	Colonic Mucosa	Colon
32	chr1:211786200-211787000	Enhancers	Lung	lung
33	chr1:211786200-211787000	Flanking Active TSS	K562	blood
34	chr1:211786200-211787400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:211786200-211787400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:211786200-211787400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:211786200-211787600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:211786200-211787600	Enhancers	Right Atrium	heart
39	chr1:211786200-211787600	Enhancers	HMEC	breast
40	chr1:211786200-211787600	Enhancers	NH-A	brain
41	chr1:211786200-211787600	Enhancers	NHDF-Ad	bronchial
42	chr1:211786200-211788200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:211786200-211788200	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:211786200-211788600	Enhancers	Fetal Intestine Large	intestine
45	chr1:211786200-211789000	Enhancers	Fetal Intestine Small	intestine
46	chr1:211786400-211787000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:211786400-211787000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:211786400-211787000	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:211786400-211787000	Flanking Active TSS	A549	lung
50	chr1:211786400-211787000	Enhancers	HSMM	muscle

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