Variant report

Variant	rs55990219
Chromosome Location	chr10:22035324-22035325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22028263..22029994-chr10:22035034..22036856,2	K562	blood:
2	chr10:22032480..22035941-chr10:22037308..22040299,3	K562	blood:
3	chr10:22030135..22033063-chr10:22034541..22036307,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16921919	0.91[EUR][1000 genomes]
rs41304605	0.90[EUR][1000 genomes]
rs55742770	0.90[EUR][1000 genomes]
rs67009934	0.90[EUR][1000 genomes]
rs72797462	0.90[EUR][1000 genomes]
rs72797470	0.90[EUR][1000 genomes]
rs72797476	0.90[EUR][1000 genomes]
rs72802931	0.90[EUR][1000 genomes]
rs72802956	0.90[EUR][1000 genomes]
rs72804398	1.00[EUR][1000 genomes]
rs72806334	0.90[EUR][1000 genomes]
rs72806949	0.90[EUR][1000 genomes]
rs7912711	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv540513	chr10:22031022-22065456	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22016800-22038800	Weak transcription	Stomach Mucosa	stomach
2	chr10:22021200-22036000	Weak transcription	Fetal Brain Male	brain
3	chr10:22022800-22035400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:22022800-22037800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr10:22023000-22046200	Weak transcription	Right Atrium	heart
6	chr10:22023200-22039800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:22023600-22035400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:22023800-22036600	Strong transcription	Fetal Muscle Leg	muscle
9	chr10:22024200-22036000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:22024200-22037000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:22024600-22039000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:22024800-22039800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:22028200-22056600	Weak transcription	Hela-S3	cervix
14	chr10:22029200-22040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:22029400-22053000	Weak transcription	Colonic Mucosa	Colon
16	chr10:22030200-22035400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:22030600-22036400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:22031600-22037200	Strong transcription	Fetal Intestine Small	intestine
19	chr10:22031600-22039800	Strong transcription	Fetal Stomach	stomach
20	chr10:22031800-22037600	Weak transcription	Psoas Muscle	Psoas
21	chr10:22032400-22036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:22032800-22037000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:22032800-22042600	Weak transcription	HepG2	liver
24	chr10:22033400-22037600	Weak transcription	HUVEC	blood vessel
25	chr10:22033400-22039800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr10:22033800-22036200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:22033800-22036400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:22033800-22037800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:22033800-22039200	Weak transcription	Fetal Kidney	kidney
30	chr10:22033800-22040000	Weak transcription	K562	blood
31	chr10:22033800-22041200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:22033800-22043600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:22033800-22044600	Weak transcription	HSMMtube	muscle
34	chr10:22033800-22046600	Weak transcription	Brain Hippocampus Middle	brain
35	chr10:22033800-22047400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:22033800-22047400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:22033800-22047600	Weak transcription	Colon Smooth Muscle	Colon
38	chr10:22034000-22038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:22034000-22039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:22034000-22039400	Weak transcription	Esophagus	oesophagus
41	chr10:22034000-22041000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:22034000-22043000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr10:22034000-22043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:22034000-22043400	Weak transcription	Adipose Nuclei	Adipose
45	chr10:22034000-22044600	Weak transcription	Osteobl	bone
46	chr10:22034000-22045600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:22034000-22045600	Weak transcription	Ovary	ovary
48	chr10:22034000-22046400	Weak transcription	Fetal Brain Female	brain
49	chr10:22034000-22046800	Weak transcription	Brain Substantia Nigra	brain
50	chr10:22034000-22046800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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