Variant report

Variant	rs1977144
Chromosome Location	chr1:184525007-184525008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10489727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823266	1.00[AMR][1000 genomes]
rs58369306	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61004935	1.00[AMR][1000 genomes]
rs73046716	1.00[AMR][1000 genomes]
rs73061657	1.00[AMR][1000 genomes]
rs73063518	1.00[AMR][1000 genomes]
rs73063548	1.00[AMR][1000 genomes]
rs73063553	0.88[AFR][1000 genomes];1.00[AMR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184502600-184527200	Weak transcription	Fetal Brain Female	brain
2	chr1:184505800-184530800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:184505800-184531600	Weak transcription	Fetal Stomach	stomach
4	chr1:184511400-184530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:184512200-184530200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:184512200-184543600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:184512400-184530200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:184514400-184543800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:184515200-184531200	Weak transcription	NHLF	lung
10	chr1:184516400-184529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:184520800-184542000	Weak transcription	Ovary	ovary
12	chr1:184521000-184525400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:184521000-184530200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:184521000-184535800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:184521000-184547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:184523000-184530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:184524000-184526600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:184524200-184525400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:184524200-184525400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:184524200-184525600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:184524200-184525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:184524200-184526000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:184524200-184526400	Enhancers	Right Atrium	heart
24	chr1:184524200-184526600	Enhancers	HMEC	breast
25	chr1:184524200-184528400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:184524400-184525200	Enhancers	Brain Germinal Matrix	brain
27	chr1:184524400-184525400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:184524400-184525400	Enhancers	Adipose Nuclei	Adipose
29	chr1:184524400-184525400	Enhancers	Brain Hippocampus Middle	brain
30	chr1:184524400-184525400	Enhancers	Esophagus	oesophagus
31	chr1:184524400-184525600	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:184524400-184525800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:184524400-184526400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:184524400-184526400	Enhancers	Right Ventricle	heart
35	chr1:184524400-184526600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:184524400-184526600	Enhancers	Left Ventricle	heart
37	chr1:184524400-184527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:184524400-184529200	Enhancers	Psoas Muscle	Psoas
39	chr1:184524600-184525200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:184524600-184525200	Enhancers	Colon Smooth Muscle	Colon
41	chr1:184524600-184525400	Enhancers	Spleen	Spleen
42	chr1:184524600-184525600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:184524600-184525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:184524600-184531200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:184524800-184525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:184525000-184525200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:184525000-184525400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:184525000-184525400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:184525000-184525400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:184525000-184525600	Flanking Active TSS	NHEK	skin

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