Variant report

Variant	rs55804443
Chromosome Location	chr2:98415304-98415305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98386279..98388129-chr2:98414600..98416331,2	K562	blood:
2	chr2:98414101..98415946-chr2:98420094..98421942,2	MCF-7	breast:
3	chr2:98406044..98408810-chr2:98414530..98416277,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55887737	0.84[AFR][1000 genomes]
rs56319654	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56954126	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58415781	0.89[AFR][1000 genomes]
rs58576615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62154516	0.89[AFR][1000 genomes]
rs62154549	0.82[AFR][1000 genomes]
rs62154555	0.80[AFR][1000 genomes]
rs62154556	0.80[AFR][1000 genomes]
rs62154558	0.80[AFR][1000 genomes]
rs73960406	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960407	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960426	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960434	1.00[AMR][1000 genomes]
rs7420897	0.89[AFR][1000 genomes]
rs7575922	0.80[AFR][1000 genomes]
rs7576509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606272	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
7	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
10	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:98402000-98416600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:98402600-98422600	Strong transcription	Liver	Liver
19	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
22	chr2:98406200-98427200	Weak transcription	K562	blood
23	chr2:98406400-98469200	Weak transcription	A549	lung
24	chr2:98406800-98416400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:98407400-98422000	Strong transcription	Adipose Nuclei	Adipose
26	chr2:98407400-98422200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:98407800-98422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:98409400-98417000	Weak transcription	Lung	lung
31	chr2:98409400-98418600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
35	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
36	chr2:98409600-98415600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:98409600-98418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:98409600-98419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
41	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
42	chr2:98410000-98415400	Weak transcription	HMEC	breast
43	chr2:98410000-98415800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:98410000-98417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:98410000-98417600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:98410000-98417600	Weak transcription	Dnd41	blood
47	chr2:98410000-98417600	Weak transcription	NHLF	lung
48	chr2:98410000-98423400	Weak transcription	Right Ventricle	heart
49	chr2:98410000-98424800	Weak transcription	Brain Germinal Matrix	brain
50	chr2:98410000-98424800	Weak transcription	Esophagus	oesophagus

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