Variant report

Variant	rs55864203
Chromosome Location	chr17:34053546-34053547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34044710..34046597-chr17:34052337..34054242,2	K562	blood:
2	chr17:34052693..34055249-chr17:34130383..34133177,2	K562	blood:
3	chr17:34052461..34055326-chr17:34057428..34060444,5	K562	blood:

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56101728	1.00[AMR][1000 genomes]
rs56118006	1.00[AMR][1000 genomes]
rs60575561	1.00[AMR][1000 genomes]
rs60582120	0.94[AFR][1000 genomes]
rs60841383	0.81[AFR][1000 genomes]
rs61560017	1.00[AFR][1000 genomes]
rs73990212	0.94[AFR][1000 genomes]
rs73990221	0.81[AFR][1000 genomes]
rs73990224	0.81[AFR][1000 genomes]
rs73990261	1.00[AFR][1000 genomes]
rs73990268	0.87[AFR][1000 genomes]
rs73990290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73992831	1.00[AMR][1000 genomes]
rs73992847	1.00[AMR][1000 genomes]
rs73992850	1.00[AMR][1000 genomes]
rs73992855	1.00[AMR][1000 genomes]
rs73992856	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:34035400-34056200	Strong transcription	A549	lung
6	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr17:34040400-34054400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:34040800-34054400	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:34040800-34054400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:34042800-34055400	Strong transcription	Primary T cells from cord blood	blood
19	chr17:34043600-34053800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:34043800-34054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:34044800-34055800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:34046000-34054800	Strong transcription	Dnd41	blood
24	chr17:34046600-34056200	Strong transcription	HMEC	breast
25	chr17:34048200-34055400	Strong transcription	Primary B cells from cord blood	blood
26	chr17:34048400-34055600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr17:34049600-34053600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:34050000-34053600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:34050000-34054200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:34050000-34054200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:34050000-34055000	Strong transcription	Liver	Liver
32	chr17:34050200-34055800	Strong transcription	Thymus	Thymus
33	chr17:34050400-34054400	Strong transcription	Fetal Thymus	thymus
34	chr17:34050400-34055400	Strong transcription	Fetal Brain Female	brain
35	chr17:34050400-34056000	Strong transcription	Lung	lung
36	chr17:34050600-34054400	Strong transcription	Gastric	stomach
37	chr17:34050600-34054400	Strong transcription	Stomach Mucosa	stomach
38	chr17:34050600-34055000	Strong transcription	Spleen	Spleen
39	chr17:34050600-34055200	Strong transcription	Esophagus	oesophagus
40	chr17:34050600-34055400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:34050800-34054200	Genic enhancers	Fetal Intestine Small	intestine
42	chr17:34051400-34054200	Enhancers	Fetal Heart	heart
43	chr17:34051600-34053800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:34051600-34054800	Genic enhancers	Placenta	Placenta
45	chr17:34051800-34053600	Weak transcription	Pancreas	Pancrea
46	chr17:34052000-34053800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:34052000-34054600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr17:34052200-34054400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:34052200-34054400	Enhancers	Ovary	ovary
50	chr17:34052200-34054600	Genic enhancers	NH-A	brain

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