Variant report

Variant	rs17093647
Chromosome Location	chr14:68918480-68918481
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68874422..68876560-chr14:68917210..68919042,2	MCF-7	breast:
2	chr14:68883175..68885283-chr14:68918450..68920761,2	MCF-7	breast:
3	chr14:68917244..68919949-chr14:68930755..68933686,2	MCF-7	breast:
4	chr14:68916802..68919938-chr14:68924497..68927794,5	MCF-7	breast:
5	chr14:68868560..68870207-chr14:68918172..68920356,2	MCF-7	breast:
6	chr14:68917252..68919453-chr14:68919984..68923283,3	MCF-7	breast:
7	chr14:68719926..68722886-chr14:68917535..68919411,2	MCF-7	breast:
8	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
9	chr14:68918175..68920737-chr14:68921753..68924276,3	K562	blood:
10	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
11	chr14:68916102..68918734-chr14:69031708..69033392,2	MCF-7	breast:
12	chr14:68914261..68916800-chr14:68917548..68919754,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11845050	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs11846360	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs11847185	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17105655	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17105675	0.91[YRI][hapmap];0.81[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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68911800-68921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68914200-68918600	Enhancers	Colon Smooth Muscle	Colon
3	chr14:68914400-68918800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:68914400-68919000	Enhancers	Fetal Stomach	stomach
5	chr14:68915000-68918600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:68915400-68924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68915600-68925400	Weak transcription	Colonic Mucosa	Colon
8	chr14:68916000-68919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:68916000-68919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:68916200-68918800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:68916200-68918800	Enhancers	Adipose Nuclei	Adipose
12	chr14:68916200-68919000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:68916200-68919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:68916600-68918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:68916600-68918600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:68916600-68918600	Weak transcription	HSMM	muscle
17	chr14:68916600-68919000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:68916600-68921200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:68916600-68924800	Weak transcription	Fetal Kidney	kidney
20	chr14:68916800-68918800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:68916800-68918800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:68916800-68919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:68916800-68925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:68917000-68918800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:68917200-68918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:68917200-68918800	Enhancers	Right Atrium	heart
27	chr14:68917200-68919000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:68917400-68918800	Enhancers	A549	lung
29	chr14:68917400-68919000	Enhancers	HSMMtube	muscle
30	chr14:68917600-68918600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:68917600-68918800	Enhancers	Fetal Lung	lung
32	chr14:68917800-68918600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:68917800-68918800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:68918000-68921200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:68918200-68918600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:68918200-68918600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:68918200-68918600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr14:68918200-68918800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:68918200-68918800	Enhancers	Left Ventricle	heart
40	chr14:68918200-68918800	Enhancers	Psoas Muscle	Psoas
41	chr14:68918200-68918800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr14:68918200-68918800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:68918200-68918800	Enhancers	Osteobl	bone
44	chr14:68918200-68919000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:68918200-68919400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:68918200-68919400	Enhancers	Liver	Liver
47	chr14:68918400-68918600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:68918400-68918600	Enhancers	Primary B cells from peripheral blood	blood
49	chr14:68918400-68918600	Enhancers	Brain Anterior Caudate	brain
50	chr14:68918400-68918600	Enhancers	Fetal Intestine Large	intestine

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