Variant report

Variant	rs2767380
Chromosome Location	chr14:68647237-68647238
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68602556..68605498-chr14:68644856..68647677,2	MCF-7	breast:
2	chr14:68606522..68609146-chr14:68646292..68648730,3	MCF-7	breast:
3	chr14:68635724..68652229-chr14:68652309..68662207,28	MCF-7	breast:
4	chr14:68645595..68647728-chr14:69282416..69284911,2	MCF-7	breast:
5	chr14:68631061..68632736-chr14:68646338..68648458,2	MCF-7	breast:
6	chr14:68644898..68647865-chr14:68656989..68659986,2	K562	blood:
7	chr14:68646641..68650349-chr14:69255311..69259925,5	MCF-7	breast:
8	chr14:68637477..68641965-chr14:68646902..68653784,8	MCF-7	breast:
9	chr14:68604553..68606506-chr14:68645240..68647824,2	MCF-7	breast:
10	chr14:68641980..68649731-chr14:69257226..69262968,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2588822	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767363	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767381	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2767386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34030120	1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68635400-68648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68636200-68648000	Weak transcription	HSMM	muscle
3	chr14:68640400-68647600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:68640400-68648000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:68640600-68648200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:68641000-68648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:68641000-68648200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:68641200-68647600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:68641400-68647400	Weak transcription	HepG2	liver
10	chr14:68641400-68648400	Weak transcription	Liver	Liver
11	chr14:68641400-68658000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:68642200-68647400	Weak transcription	Fetal Intestine Large	intestine
13	chr14:68642400-68659800	Weak transcription	Pancreas	Pancrea
14	chr14:68644800-68648000	Weak transcription	Small Intestine	intestine
15	chr14:68644800-68648400	Weak transcription	Esophagus	oesophagus
16	chr14:68644800-68648400	Weak transcription	Ovary	ovary
17	chr14:68645000-68651000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:68645000-68655600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:68645400-68647800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68645400-68647800	Weak transcription	NHDF-Ad	bronchial
21	chr14:68645400-68648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:68645600-68647400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68645600-68647600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:68645600-68647800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:68645600-68648000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:68645600-68648000	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:68645600-68648000	Weak transcription	Fetal Thymus	thymus
28	chr14:68645600-68648000	Weak transcription	NH-A	brain
29	chr14:68645600-68648200	Weak transcription	NHEK	skin
30	chr14:68645600-68648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68645600-68648600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:68645800-68648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:68645800-68648000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:68645800-68648400	Weak transcription	Fetal Lung	lung
35	chr14:68646000-68647400	Weak transcription	Stomach Mucosa	stomach
36	chr14:68646000-68647600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:68646000-68647800	Weak transcription	A549	lung
38	chr14:68646000-68647800	Weak transcription	Osteobl	bone
39	chr14:68646000-68648000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:68646000-68648000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:68646000-68648200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:68646000-68648600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:68646000-68650800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:68646200-68647600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:68646200-68647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:68646200-68648400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:68646400-68647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:68646600-68648200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:68646600-68648200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:68646600-68651000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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