Variant report

Variant	rs11096657
Chromosome Location	chr2:20525624-20525625
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	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
2	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1043419	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096656	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2058553	0.92[ASN][1000 genomes]
rs2160071	0.92[ASN][1000 genomes]
rs4465730	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4666300	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4666379	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4666384	0.85[ASN][1000 genomes]
rs4666385	0.88[ASN][1000 genomes]
rs56116608	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62124605	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62124607	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6531227	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6531228	1.00[ASN][1000 genomes]
rs6531230	1.00[ASN][1000 genomes]
rs6706872	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6741559	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs719148	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7596183	0.82[ASN][1000 genomes]
rs7606633	1.00[ASN][1000 genomes]
rs989982	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:20471800-20533800	Strong transcription	Dnd41	blood
5	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr2:20489800-20525800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:20492400-20525800	Strong transcription	Liver	Liver
9	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
10	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:20505200-20526000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:20505200-20526600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:20507800-20527600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
15	chr2:20515200-20526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:20515200-20527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:20516800-20529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:20517800-20527000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:20517800-20527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:20517800-20527600	Weak transcription	Pancreas	Pancrea
22	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:20517800-20530000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20518000-20529200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:20518200-20526000	Weak transcription	Aorta	Aorta
28	chr2:20518200-20527400	Weak transcription	Esophagus	oesophagus
29	chr2:20518200-20530200	Weak transcription	Spleen	Spleen
30	chr2:20518400-20527200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:20518400-20527400	Weak transcription	HSMMtube	muscle
32	chr2:20518400-20530400	Weak transcription	Psoas Muscle	Psoas
33	chr2:20518600-20530200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:20519200-20525800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:20519200-20525800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:20519200-20530200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:20519600-20528200	Weak transcription	Fetal Brain Female	brain
38	chr2:20520600-20525800	Strong transcription	Fetal Lung	lung
39	chr2:20520800-20526600	Strong transcription	Hela-S3	cervix
40	chr2:20520800-20526600	Strong transcription	HSMM	muscle
41	chr2:20521200-20526400	Strong transcription	K562	blood
42	chr2:20521400-20526200	Strong transcription	Primary B cells from cord blood	blood
43	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
44	chr2:20521800-20526200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:20521800-20527200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:20522200-20525800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:20522200-20525800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:20522200-20526400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:20522200-20526800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:20522400-20525800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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