Variant report

Variant	rs73288067
Chromosome Location	chr14:68639816-68639817
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
2	chr14:68639674..68641620-chr14:69260213..69261975,2	MCF-7	breast:
3	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
4	chr14:68408949..68410726-chr14:68639004..68640689,2	MCF-7	breast:
5	chr14:68637720..68641330-chr14:68657106..68660003,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17105103	1.00[AFR][1000 genomes]
rs17105117	1.00[AFR][1000 genomes]
rs17105236	1.00[AFR][1000 genomes]
rs17105277	0.93[AFR][1000 genomes]
rs17105285	0.93[AFR][1000 genomes]
rs1958110	1.00[AFR][1000 genomes]
rs35590923	1.00[AFR][1000 genomes]
rs60505104	1.00[AFR][1000 genomes]
rs73288081	1.00[AFR][1000 genomes]
rs73288084	1.00[AFR][1000 genomes]
rs73288097	1.00[AFR][1000 genomes]
rs73290210	1.00[AFR][1000 genomes]
rs73290216	1.00[AFR][1000 genomes]
rs73290218	1.00[AFR][1000 genomes]
rs73290248	0.93[AFR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1048794	chr14:68614152-68649231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68629600-68642200	Enhancers	Fetal Intestine Large	intestine
2	chr14:68629600-68642400	Enhancers	Fetal Intestine Small	intestine
3	chr14:68630600-68642400	Enhancers	Stomach Mucosa	stomach
4	chr14:68632400-68641200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:68634400-68640200	Weak transcription	Colonic Mucosa	Colon
6	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68636000-68640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:68636000-68644000	Weak transcription	Psoas Muscle	Psoas
9	chr14:68636200-68644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:68636200-68648000	Weak transcription	HSMM	muscle
11	chr14:68636600-68640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:68637800-68641200	Weak transcription	Gastric	stomach
13	chr14:68638600-68640200	Flanking Active TSS	HepG2	liver
14	chr14:68638600-68640800	Weak transcription	Pancreas	Pancrea
15	chr14:68638600-68644000	Weak transcription	Esophagus	oesophagus
16	chr14:68638600-68645600	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:68638800-68640400	Enhancers	Fetal Lung	lung
18	chr14:68638800-68640400	Enhancers	Fetal Stomach	stomach
19	chr14:68638800-68640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:68638800-68641000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:68638800-68641000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:68638800-68641000	Enhancers	Stomach Smooth Muscle	stomach
23	chr14:68638800-68641000	Flanking Active TSS	A549	lung
24	chr14:68638800-68641600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:68638800-68642200	Enhancers	Fetal Kidney	kidney
26	chr14:68638800-68645800	Enhancers	Colon Smooth Muscle	Colon
27	chr14:68639000-68640000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:68639000-68641000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:68639200-68640200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:68639200-68641200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:68639400-68640600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr14:68639400-68640600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:68639400-68641400	Enhancers	Liver	Liver
34	chr14:68639600-68640600	Enhancers	Ovary	ovary
35	chr14:68639600-68641000	Enhancers	Small Intestine	intestine
36	chr14:68639600-68641000	Enhancers	Osteobl	bone
37	chr14:68639800-68640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:68639800-68640200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:68639800-68640400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:68639800-68641000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr14:68639800-68642600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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