Variant report

Variant	rs7145443
Chromosome Location	chr14:68713742-68713743
allele	A/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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68710270..68718985-chr14:68771545..68777065,19	MCF-7	breast:
2	chr14:68655074..68665772-chr14:68705598..68717948,30	MCF-7	breast:
3	chr14:68713315..68714834-chr14:68935633..68937322,2	MCF-7	breast:
4	chr14:68656043..68661099-chr14:68710391..68716081,7	MCF-7	breast:
5	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
6	chr14:68712652..68716237-chr14:68722010..68723872,3	MCF-7	breast:
7	chr14:68713706..68716273-chr14:69277811..69279687,2	MCF-7	breast:
8	chr14:68713244..68715360-chr14:69094064..69096283,2	MCF-7	breast:
9	chr14:68711627..68715466-chr14:69257359..69259390,3	K562	blood:
10	chr14:68606859..68608701-chr14:68712605..68715060,2	MCF-7	breast:
11	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
12	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
13	chr14:68604504..68610375-chr14:68709920..68717829,10	MCF-7	breast:
14	chr14:68708487..68726231-chr14:69250578..69263645,103	MCF-7	breast:
15	chr14:68409323..68412497-chr14:68713379..68716018,3	MCF-7	breast:
16	chr14:68711091..68724838-chr14:69248065..69264571,70	MCF-7	breast:
17	chr14:68549897..68552411-chr14:68713293..68716629,3	MCF-7	breast:
18	chr14:68631809..68634739-chr14:68711873..68715827,4	MCF-7	breast:
19	chr14:68673468..68675267-chr14:68712695..68715486,2	MCF-7	breast:
20	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
21	chr14:68711443..68714293-chr14:68715594..68717440,2	MCF-7	breast:
22	chr14:68633516..68636116-chr14:68713007..68714934,3	MCF-7	breast:
23	chr14:68647380..68649631-chr14:68713647..68715279,2	MCF-7	breast:
24	chr14:68713328..68715932-chr14:68978216..68981551,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17105191	0.81[AFR][1000 genomes]
rs17105200	0.81[AFR][1000 genomes]
rs17105229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4584756	0.86[AFR][1000 genomes]
rs7145107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7161572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8013323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv976350	chr14:68713564-68714267	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68697600-68714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:68703000-68714000	Enhancers	Fetal Muscle Leg	muscle
3	chr14:68703000-68718800	Enhancers	Fetal Intestine Large	intestine
4	chr14:68703200-68718800	Enhancers	Fetal Intestine Small	intestine
5	chr14:68704400-68714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:68707200-68724000	Enhancers	Fetal Lung	lung
7	chr14:68707400-68715800	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:68707600-68720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:68707800-68717800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr14:68707800-68718000	Enhancers	Stomach Mucosa	stomach
11	chr14:68708200-68715400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:68708400-68715400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:68709000-68715400	Weak transcription	Esophagus	oesophagus
14	chr14:68709600-68717800	Enhancers	Adipose Nuclei	Adipose
15	chr14:68710000-68718800	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:68710200-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:68710200-68718600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:68710200-68718800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:68710200-68719000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:68710200-68719400	Enhancers	Fetal Heart	heart
21	chr14:68710400-68713800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:68710400-68713800	Enhancers	Small Intestine	intestine
23	chr14:68710400-68715000	Enhancers	K562	blood
24	chr14:68710400-68718600	Enhancers	Brain Hippocampus Middle	brain
25	chr14:68710400-68718600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:68710400-68718800	Enhancers	Fetal Stomach	stomach
27	chr14:68710800-68714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:68710800-68717800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:68710800-68718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:68710800-68719000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:68711000-68713800	Enhancers	Right Atrium	heart
32	chr14:68711000-68714000	Enhancers	Fetal Thymus	thymus
33	chr14:68711200-68713800	Enhancers	Psoas Muscle	Psoas
34	chr14:68711200-68718600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:68711400-68715200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:68711400-68715400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:68711400-68715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:68711400-68719200	Enhancers	Colon Smooth Muscle	Colon
39	chr14:68711600-68713800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:68711600-68714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:68711600-68715000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:68711600-68715000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:68711600-68715600	Weak transcription	Gastric	stomach
44	chr14:68711800-68714600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:68712000-68714000	Enhancers	NHLF	lung
46	chr14:68712000-68717800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:68712200-68713800	Enhancers	Left Ventricle	heart
48	chr14:68712200-68714000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:68712200-68714600	Weak transcription	Thymus	Thymus
50	chr14:68712200-68714600	Weak transcription	Spleen	Spleen

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