Variant report

Variant	rs73031369
Chromosome Location	chr2:178120037-178120038
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178118014..178120377-chr2:178191439..178193485,2	K562	blood:
2	chr2:178027758..178037377-chr2:178117808..178124193,11	K562	blood:
3	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
4	chr2:178118882..178120142-chr2:178128426..178129490,3	K562	blood:
5	chr2:178117173..178120144-chr2:178201534..178205141,3	K562	blood:

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000116044	Chromatin interaction

rs_ID	r²[population]
rs57572550	1.00[AMR][1000 genomes]
rs58023539	1.00[AMR][1000 genomes]
rs58549185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61130794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025432	1.00[AMR][1000 genomes]
rs73025447	1.00[AMR][1000 genomes]
rs73025639	1.00[AMR][1000 genomes]
rs73029340	1.00[AMR][1000 genomes]
rs73029355	1.00[AMR][1000 genomes]
rs73031362	1.00[AMR][1000 genomes]
rs73031364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035197	1.00[AMR][1000 genomes]
rs73039087	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178078600-178121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:178107200-178126000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:178107800-178123000	Enhancers	Psoas Muscle	Psoas
4	chr2:178108200-178122600	Enhancers	Adipose Nuclei	Adipose
5	chr2:178113400-178126600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:178114600-178125800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:178114600-178126000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:178114800-178121400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:178114800-178122600	Enhancers	Brain Hippocampus Middle	brain
10	chr2:178114800-178123200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:178114800-178123400	Enhancers	Stomach Mucosa	stomach
12	chr2:178115000-178120600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:178115000-178123600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:178115600-178121800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:178116400-178122800	Enhancers	Fetal Intestine Large	intestine
16	chr2:178116600-178121200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:178116600-178121600	Enhancers	Fetal Intestine Small	intestine
18	chr2:178117200-178122800	Enhancers	Fetal Heart	heart
19	chr2:178117600-178120600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:178117800-178121000	Weak transcription	Thymus	Thymus
21	chr2:178117800-178122200	Genic enhancers	Hela-S3	cervix
22	chr2:178117800-178122400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:178117800-178124800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:178118000-178121600	Weak transcription	Fetal Lung	lung
25	chr2:178118200-178120600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:178118200-178121200	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:178118200-178123200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr2:178118400-178120800	Weak transcription	Primary B cells from cord blood	blood
29	chr2:178118600-178120200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:178118600-178120200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:178118600-178120400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
32	chr2:178118600-178121800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:178118600-178122000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:178118800-178120400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:178118800-178120400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:178118800-178120400	Transcr. at gene 5' and 3'	K562	blood
37	chr2:178118800-178120600	Enhancers	Placenta	Placenta
38	chr2:178118800-178121800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:178118800-178121800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:178118800-178122400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:178118800-178122600	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr2:178118800-178122600	Enhancers	Small Intestine	intestine
43	chr2:178119000-178120200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr2:178119000-178120200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:178119000-178120200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:178119000-178120200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:178119000-178120200	Transcr. at gene 5' and 3'	HepG2	liver
48	chr2:178119000-178120200	Transcr. at gene 5' and 3'	NHEK	skin
49	chr2:178119000-178120400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:178119000-178120400	Genic enhancers	Lung	lung

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