Variant report

Variant	rs12050420
Chromosome Location	chr14:68662862-68662863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68661742..68664432-chr14:68925183..68928909,3	MCF-7	breast:
2	chr14:68657222..68663496-chr14:68695468..68701015,13	MCF-7	breast:
3	chr14:68658527..68664263-chr14:68695508..68700857,17	MCF-7	breast:
4	chr14:68661354..68663465-chr14:68710043..68713099,3	MCF-7	breast:
5	chr14:68659031..68663058-chr14:69251667..69256012,5	MCF-7	breast:
6	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
7	chr14:68656896..68664157-chr14:69254996..69262940,23	MCF-7	breast:
8	chr14:68660674..68663358-chr14:68719026..68721726,2	MCF-7	breast:
9	chr14:68657382..68663307-chr14:68771021..68776308,9	MCF-7	breast:
10	chr14:68660929..68663039-chr14:69257145..69258950,2	MCF-7	breast:
11	chr14:68661189..68664435-chr14:68673006..68675908,3	MCF-7	breast:
12	chr14:68661795..68663594-chr14:69290937..69292975,2	MCF-7	breast:
13	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1274638	0.82[AFR][1000 genomes]
rs1274643	0.81[AFR][1000 genomes]
rs1274648	0.81[AFR][1000 genomes]
rs1958114	0.80[ASN][1000 genomes]
rs2255767	0.82[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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68647000-68676600	Weak transcription	Primary B cells from cord blood	blood
2	chr14:68649400-68677000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68651200-68675000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:68658000-68665000	Enhancers	Rectal Smooth Muscle	rectum
5	chr14:68659000-68663800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:68659000-68666200	Weak transcription	Ovary	ovary
7	chr14:68659600-68665600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:68660000-68665600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:68660200-68665400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:68660200-68665400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:68660200-68665600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:68660600-68666200	Weak transcription	Psoas Muscle	Psoas
13	chr14:68660800-68665600	Weak transcription	Small Intestine	intestine
14	chr14:68661000-68665600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:68661200-68665600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:68661200-68665600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:68661200-68665600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:68661200-68666200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:68661400-68665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:68661400-68665800	Weak transcription	Fetal Lung	lung
21	chr14:68661400-68666400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:68661600-68665200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:68661800-68663200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:68661800-68663600	Weak transcription	Fetal Intestine Large	intestine
25	chr14:68661800-68665600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:68661800-68665600	Weak transcription	Fetal Kidney	kidney
27	chr14:68661800-68665600	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:68661800-68665600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:68661800-68665800	Weak transcription	Fetal Stomach	stomach
30	chr14:68662200-68663400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:68662200-68663800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:68662200-68664600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:68662400-68663400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:68662400-68663400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:68662400-68663400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:68662400-68663600	Weak transcription	Liver	Liver
37	chr14:68662400-68663600	Weak transcription	A549	lung
38	chr14:68662400-68664200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:68662600-68663000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:68662600-68663000	Weak transcription	Stomach Mucosa	stomach
41	chr14:68662600-68665200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:68662600-68665400	Weak transcription	HepG2	liver
43	chr14:68662800-68667200	Enhancers	Fetal Intestine Small	intestine

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