Variant report

Variant	rs55888604
Chromosome Location	chr1:185154497-185154498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185150463..185152934-chr1:185153697..185155441,2	K562	blood:
2	chr1:185152407..185157322-chr1:185157333..185160486,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56381620	1.00[AFR][1000 genomes]
rs72724116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72724117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72724134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72739689	1.00[AFR][1000 genomes]
rs7539121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats 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
3	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
3	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
4	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
7	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
8	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
11	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:185128400-185201800	Weak transcription	Gastric	stomach
13	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
14	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
15	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:185132000-185155800	Weak transcription	HSMMtube	muscle
17	chr1:185134000-185170600	Weak transcription	Lung	lung
18	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:185134800-185159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:185135000-185162800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:185136600-185167200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:185136800-185171200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:185137200-185166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:185137400-185154600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:185137400-185160000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:185137400-185160200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:185137400-185168000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:185137400-185177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:185138000-185157400	Weak transcription	HUVEC	blood vessel
34	chr1:185138000-185182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:185138000-185186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:185138200-185171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:185139600-185159200	Weak transcription	Fetal Brain Female	brain
39	chr1:185139600-185177400	Weak transcription	Fetal Kidney	kidney
40	chr1:185139800-185156200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:185139800-185165400	Weak transcription	Thymus	Thymus
42	chr1:185139800-185167000	Weak transcription	Fetal Lung	lung
43	chr1:185139800-185168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:185140000-185164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:185140600-185157200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:185141000-185157000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:185144800-185181200	Weak transcription	Rectal Mucosa Donor 31	rectum

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