Variant report

Variant	rs72718285
Chromosome Location	chr14:69540480-69540481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69538205..69540864-chr14:69545299..69548290,2	MCF-7	breast:
2	chr14:69444481..69448901-chr14:69538252..69542647,3	MCF-7	breast:
3	chr14:69524611..69527139-chr14:69538352..69541318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72720274	1.00[AFR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
3	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
4	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
9	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
10	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
12	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
15	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
17	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
18	chr14:69528600-69545400	Weak transcription	Gastric	stomach
19	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
22	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:69529200-69541200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:69529600-69544600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:69529600-69545800	Weak transcription	Small Intestine	intestine
27	chr14:69530600-69540600	Weak transcription	Fetal Kidney	kidney
28	chr14:69530800-69540600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:69534600-69541200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:69534600-69542000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:69534800-69542200	Strong transcription	Fetal Thymus	thymus
32	chr14:69534800-69544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69534800-69544800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:69535200-69544000	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:69535400-69541400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:69535400-69544000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:69535600-69541600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:69535600-69542200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:69535800-69542200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:69535800-69542200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:69536000-69542200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:69536000-69553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:69536200-69540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:69536200-69542200	Strong transcription	Fetal Stomach	stomach
46	chr14:69536200-69543800	Weak transcription	HMEC	breast
47	chr14:69536200-69544000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:69536200-69544200	Weak transcription	A549	lung
49	chr14:69536200-69556400	Weak transcription	K562	blood
50	chr14:69536400-69540600	Weak transcription	NH-A	brain

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