Variant report

Variant	rs41390345
Chromosome Location	chr2:191872069-191872070
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191863027..191868321-chr2:191868362..191873359,8	K562	blood:
2	chr2:191859729..191861562-chr2:191872000..191874100,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41429347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41446247	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][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	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
4	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
6	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
7	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:191831000-191873800	Strong transcription	HepG2	liver
13	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:191840400-191873200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:191844200-191872400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:191845400-191874000	Strong transcription	NHLF	lung
19	chr2:191845400-191875600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr2:191845400-191875800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:191845600-191873000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:191846000-191876800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:191846800-191875600	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:191847800-191876800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:191848400-191876600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:191848600-191876000	Strong transcription	Placenta	Placenta
27	chr2:191849800-191874000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:191850400-191874400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:191851200-191875600	Weak transcription	Right Atrium	heart
30	chr2:191852200-191875600	Strong transcription	Liver	Liver
31	chr2:191853000-191875800	Strong transcription	Dnd41	blood
32	chr2:191855000-191874800	Strong transcription	Adipose Nuclei	Adipose
33	chr2:191857000-191872200	Strong transcription	Fetal Lung	lung
34	chr2:191857200-191873800	Strong transcription	Hela-S3	cervix
35	chr2:191857800-191872200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:191857800-191872400	Strong transcription	Left Ventricle	heart
37	chr2:191857800-191873400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:191857800-191873800	Strong transcription	Colonic Mucosa	Colon
39	chr2:191857800-191873800	Strong transcription	Fetal Kidney	kidney
40	chr2:191857800-191874600	Strong transcription	NH-A	brain
41	chr2:191858000-191872400	Strong transcription	Brain Anterior Caudate	brain
42	chr2:191858000-191876200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:191858200-191875200	Strong transcription	HSMMtube	muscle
44	chr2:191859200-191878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:191860600-191875800	Strong transcription	K562	blood
46	chr2:191862000-191874200	Strong transcription	A549	lung
47	chr2:191862200-191875600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:191862400-191873800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:191864200-191876000	Strong transcription	Fetal Intestine Large	intestine
50	chr2:191865000-191874600	Strong transcription	Placenta Amnion	Placenta Amnion

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