Variant report

Variant	rs581244
Chromosome Location	chr1:94533990-94533991
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94532586..94535624-chr1:94566931..94569461,4	MCF-7	breast:
2	chr1:94533904..94535691-chr1:94564792..94567232,2	MCF-7	breast:
3	chr1:94532482..94534156-chr1:94582374..94584202,2	MCF-7	breast:
4	chr1:94527285..94528858-chr1:94532743..94535509,2	MCF-7	breast:
5	chr1:94526671..94528632-chr1:94533088..94535694,2	K562	blood:
6	chr1:94532251..94537168-chr1:94582958..94586481,4	MCF-7	breast:
7	chr1:94532845..94535328-chr1:94609574..94612339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233482	Chromatin interaction
ENSG00000198691	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1191228	0.81[EUR][1000 genomes]
rs553608	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94521000-94534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94527600-94534200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:94527800-94534400	Weak transcription	HSMMtube	muscle
4	chr1:94528000-94534400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:94529600-94534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:94529800-94534000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:94529800-94534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:94530000-94534000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:94530000-94534000	Weak transcription	Fetal Lung	lung
10	chr1:94530000-94534200	Weak transcription	Small Intestine	intestine
11	chr1:94530000-94534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:94530000-94534400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:94530000-94535600	Weak transcription	Esophagus	oesophagus
14	chr1:94530000-94537600	Weak transcription	Fetal Heart	heart
15	chr1:94530200-94534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:94530200-94534400	Weak transcription	Ovary	ovary
17	chr1:94530200-94534400	Weak transcription	NHDF-Ad	bronchial
18	chr1:94530400-94534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:94530400-94534400	Weak transcription	Right Ventricle	heart
20	chr1:94530600-94534200	Weak transcription	Fetal Stomach	stomach
21	chr1:94531400-94539200	Enhancers	HUVEC	blood vessel
22	chr1:94531600-94536400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:94532000-94538600	Enhancers	Fetal Thymus	thymus
24	chr1:94532200-94535600	Enhancers	NH-A	brain
25	chr1:94532400-94535800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:94532400-94535800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:94533000-94534000	Enhancers	HMEC	breast
28	chr1:94533000-94534600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:94533000-94535600	Enhancers	Osteobl	bone
30	chr1:94533000-94536000	Enhancers	Hela-S3	cervix
31	chr1:94533000-94537000	Enhancers	Fetal Kidney	kidney
32	chr1:94533000-94539600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:94533200-94536200	Enhancers	NHLF	lung
34	chr1:94533200-94536600	Enhancers	Adipose Nuclei	Adipose
35	chr1:94533200-94536800	Enhancers	Gastric	stomach
36	chr1:94533200-94539600	Enhancers	Thymus	Thymus
37	chr1:94533400-94535000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr1:94533400-94536400	Enhancers	Fetal Intestine Small	intestine
39	chr1:94533400-94536400	Enhancers	Stomach Mucosa	stomach
40	chr1:94533600-94534000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:94533600-94534000	Enhancers	NHEK	skin
42	chr1:94533600-94535000	Flanking Active TSS	HepG2	liver
43	chr1:94533600-94535200	Flanking Active TSS	A549	lung
44	chr1:94533600-94535400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:94533600-94535400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:94533600-94535400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:94533600-94535800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:94533600-94535800	Enhancers	Brain Anterior Caudate	brain
49	chr1:94533600-94535800	Enhancers	Fetal Intestine Large	intestine
50	chr1:94533600-94535800	Enhancers	HSMM	muscle

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