Variant report

Variant	rs74051605
Chromosome Location	chr14:56154251-56154252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56102256..56103857-chr14:56152714..56154637,2	K562	blood:
2	chr14:56152134..56154942-chr14:56705477..56707691,2	K562	blood:
3	chr14:56145095..56147248-chr14:56151830..56154443,3	K562	blood:
4	chr14:56145481..56148002-chr14:56152406..56155008,3	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10135124	1.00[EUR][1000 genomes]
rs17128607	1.00[EUR][1000 genomes]
rs28505708	1.00[EUR][1000 genomes]
rs28625011	1.00[EUR][1000 genomes]
rs55996108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58589065	0.83[AFR][1000 genomes]
rs59412666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59453610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60593092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61376005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289560	1.00[EUR][1000 genomes]
rs74051604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
4	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
9	chr14:56134000-56155000	Strong transcription	HSMM	muscle
10	chr14:56137400-56154800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:56137400-56154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:56137400-56155000	Strong transcription	Adipose Nuclei	Adipose
13	chr14:56138600-56155200	Strong transcription	A549	lung
14	chr14:56141400-56154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:56142800-56168400	Weak transcription	Fetal Kidney	kidney
16	chr14:56145800-56156800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:56145800-56157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56146400-56155600	Weak transcription	Spleen	Spleen
19	chr14:56146800-56156800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:56146800-56157800	Weak transcription	Fetal Brain Male	brain
21	chr14:56147000-56155200	Weak transcription	Fetal Brain Female	brain
22	chr14:56147400-56154600	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:56147400-56170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:56147600-56157200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:56147800-56156400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:56147800-56156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:56147800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:56148000-56161800	Weak transcription	Pancreas	Pancrea
29	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:56148400-56165600	Weak transcription	NHDF-Ad	bronchial
31	chr14:56150600-56155000	Strong transcription	GM12878-XiMat	blood
32	chr14:56150800-56157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:56151000-56155600	Strong transcription	Primary T cells from cord blood	blood
34	chr14:56151200-56165800	Weak transcription	Hela-S3	cervix
35	chr14:56151400-56154400	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:56152200-56154400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr14:56152200-56162200	Weak transcription	Fetal Intestine Small	intestine
38	chr14:56152400-56154800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:56152400-56157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:56152400-56159400	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:56152600-56156200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:56152800-56154400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:56152800-56155000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:56152800-56155000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:56152800-56155200	Weak transcription	HepG2	liver
46	chr14:56152800-56156800	Weak transcription	Fetal Lung	lung
47	chr14:56152800-56157000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:56152800-56157200	Weak transcription	Psoas Muscle	Psoas
49	chr14:56152800-56164400	Weak transcription	HMEC	breast
50	chr14:56153000-56155200	Weak transcription	Fetal Thymus	thymus

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