Variant report

Variant	rs73275597
Chromosome Location	chr14:69512443-69512444
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	chr14:69511704..69514536-chr14:69514659..69516303,2	K562	blood:
2	chr14:69510523..69515043-chr14:69515218..69517910,6	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17106764	1.00[AMR][1000 genomes]
rs17106793	1.00[AMR][1000 genomes]
rs56922727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57103818	1.00[AMR][1000 genomes]
rs58395904	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59157439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59871527	1.00[AMR][1000 genomes]
rs60643493	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60660183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142735	1.00[AMR][1000 genomes]
rs73275510	1.00[AMR][1000 genomes]
rs73275520	1.00[AMR][1000 genomes]
rs73275568	1.00[AMR][1000 genomes]
rs73275583	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275598	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277010	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277013	1.00[AMR][1000 genomes]
rs73277015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277016	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277032	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278958	1.00[AMR][1000 genomes]
rs73278965	1.00[AMR][1000 genomes]
rs73278972	1.00[AMR][1000 genomes]
rs73278980	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278990	1.00[AMR][1000 genomes]
rs73278996	1.00[AMR][1000 genomes]
rs73280821	1.00[AMR][1000 genomes]
rs73280853	1.00[AMR][1000 genomes]
rs73280860	1.00[AMR][1000 genomes]
rs73280900	1.00[AMR][1000 genomes]
rs73282607	1.00[AMR][1000 genomes]
rs73282617	1.00[AMR][1000 genomes]
rs8016668	1.00[AMR][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69508600-69513200	Enhancers	Fetal Intestine Small	intestine
2	chr14:69508600-69513400	Enhancers	Fetal Intestine Large	intestine
3	chr14:69508800-69513000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:69508800-69513800	Enhancers	Brain Hippocampus Middle	brain
5	chr14:69508800-69513800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:69508800-69513800	Enhancers	NHDF-Ad	bronchial
7	chr14:69508800-69514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:69508800-69516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:69508800-69518000	Enhancers	Fetal Muscle Leg	muscle
10	chr14:69509000-69513800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:69509200-69512800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:69509400-69513800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:69509400-69513800	Enhancers	Ovary	ovary
14	chr14:69509400-69514000	Enhancers	NH-A	brain
15	chr14:69509600-69513000	Enhancers	Pancreas	Pancrea
16	chr14:69509600-69513400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:69509600-69513800	Enhancers	Colonic Mucosa	Colon
18	chr14:69509600-69513800	Enhancers	Esophagus	oesophagus
19	chr14:69509600-69513800	Enhancers	Fetal Muscle Trunk	muscle
20	chr14:69509600-69513800	Enhancers	Psoas Muscle	Psoas
21	chr14:69509600-69513800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr14:69509600-69513800	Enhancers	Rectal Smooth Muscle	rectum
23	chr14:69509600-69514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69509600-69515600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:69509600-69516400	Enhancers	HUVEC	blood vessel
26	chr14:69509800-69513200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69509800-69513800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:69509800-69513800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:69509800-69513800	Enhancers	Right Atrium	heart
30	chr14:69509800-69513800	Enhancers	Small Intestine	intestine
31	chr14:69509800-69513800	Enhancers	NHLF	lung
32	chr14:69509800-69514000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:69509800-69514400	Enhancers	Colon Smooth Muscle	Colon
34	chr14:69509800-69514400	Enhancers	Left Ventricle	heart
35	chr14:69509800-69517400	Enhancers	Placenta	Placenta
36	chr14:69509800-69517800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:69509800-69519000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:69510000-69513200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:69510000-69514000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:69510000-69514000	Enhancers	Fetal Lung	lung
41	chr14:69510000-69514000	Enhancers	Fetal Stomach	stomach
42	chr14:69510000-69514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:69510000-69514400	Enhancers	Right Ventricle	heart
44	chr14:69510200-69513200	Enhancers	HMEC	breast
45	chr14:69510200-69513400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:69510200-69513400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:69510200-69513400	Enhancers	Brain Anterior Caudate	brain
48	chr14:69510200-69513800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:69510200-69513800	Enhancers	Gastric	stomach
50	chr14:69510200-69514000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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