Variant report

Variant	rs4844990
Chromosome Location	chr1:210467875-210467876
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210428073..210429613-chr1:210467774..210469897,2	MCF-7	breast:
2	chr1:210467132..210470101-chr1:210476675..210478835,2	MCF-7	breast:
3	chr1:210418192..210421005-chr1:210465903..210469381,6	MCF-7	breast:
4	chr1:210467411..210469958-chr1:210471110..210473541,2	K562	blood:
5	chr1:210466322..210468395-chr1:210546602..210548755,2	MCF-7	breast:
6	chr1:210465950..210468476-chr1:210473987..210476235,2	MCF-7	breast:
7	chr1:210466185..210468740-chr1:210546709..210548670,2	MCF-7	breast:
8	chr1:210439102..210441660-chr1:210465161..210467933,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228110	Chromatin interaction
ENSG00000233455	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11119457	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1738039	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4290060	0.83[AFR][1000 genomes]
rs4844517	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4844991	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656753	0.93[AFR][1000 genomes]
rs669189	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs670441	0.89[AFR][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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210465800-210470200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:210466200-210468200	Weak transcription	Gastric	stomach
3	chr1:210466400-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210466400-210468000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:210466400-210468000	Weak transcription	Esophagus	oesophagus
6	chr1:210466400-210468800	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:210466400-210468800	Enhancers	Stomach Mucosa	stomach
8	chr1:210466400-210469400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:210466600-210468000	Weak transcription	Left Ventricle	heart
10	chr1:210466600-210468000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:210466600-210468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:210466600-210468400	Enhancers	Fetal Intestine Large	intestine
13	chr1:210466600-210469000	Enhancers	NHLF	lung
14	chr1:210466600-210469200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:210466600-210469600	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:210466600-210470000	Enhancers	Fetal Stomach	stomach
17	chr1:210466600-210474200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:210466800-210468000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:210466800-210468000	Weak transcription	Colonic Mucosa	Colon
20	chr1:210466800-210468000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:210466800-210468400	Weak transcription	NHEK	skin
22	chr1:210466800-210469200	Enhancers	Colon Smooth Muscle	Colon
23	chr1:210466800-210469400	Enhancers	Adipose Nuclei	Adipose
24	chr1:210466800-210469400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:210466800-210477400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:210467000-210468000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:210467000-210468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:210467000-210468200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:210467000-210468200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:210467000-210468400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:210467000-210468400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:210467000-210468400	Weak transcription	HMEC	breast
33	chr1:210467000-210468600	Weak transcription	HSMM	muscle
34	chr1:210467000-210468800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr1:210467000-210469400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:210467000-210470000	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:210467200-210468000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:210467200-210468000	Weak transcription	Ovary	ovary
39	chr1:210467200-210468000	Weak transcription	HSMMtube	muscle
40	chr1:210467200-210468000	Enhancers	NHDF-Ad	bronchial
41	chr1:210467200-210468200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:210467200-210468200	Weak transcription	Osteobl	bone
43	chr1:210467200-210468400	Weak transcription	NH-A	brain
44	chr1:210467200-210468600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:210467200-210469000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:210467200-210469400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:210467200-210469400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:210467200-210469800	Enhancers	Fetal Heart	heart
49	chr1:210467200-210470000	Weak transcription	Fetal Kidney	kidney
50	chr1:210467400-210468000	Enhancers	Stomach Smooth Muscle	stomach

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